1번 염색체 는 인간에서 가장 큰 염색체 이다. 인간은 이질염색체 가 아닌 모든 상염색체 와 마찬가지로 1번 염색체에 두 개의 사본을 가지고 있다. 1번 염색체는 DNA 정보의 기본 단위인 약 2억 4,900만 뉴클레오타이드 염기쌍 에 걸쳐 있다.[1] [2]
상염색체 , 성염색체 를 포함한 인간의 염색체 중에서 길이가 제일 길다. 1번 염색체의 단완의 일부가 결실 되면 해당 부위의 유전자의 일부가 없어지는 유전병 이 발생하는데 이를 1번 단완 염색체 결실 증후군 이라고 한다. 해당 병에 걸리면 안면에 기형이 발생하며 발달장애 , 운동장애 등을 동반하는 경우가 많다. 인종, 성별과 무관하게 1/5000에서 1/10000 정도의 확률로 발생한다.[3]
인간 유전체 프로젝트 가 시작된 지 20년 후에 시퀀싱된 마지막 완성된 염색체였다.
유전자 [ 편집 ] 유전자 수 [ 편집 ] 다음은 인간 1번 염색체의 유전자 수 추정치 중 일부이다. 연구자들은 게놈 주석에 다른 접근 방식을 사용하기 때문에 각 염색체의 유전자 수에 대한 예측은 다양하다 (기술적인 세부 사항은 유전자 예측 참조). 다양한 프로젝트 중 CCDS (Collaborative Consensus coding sequence project)는 매우 보수적인 전략을 취한다. 따라서 CCDS의 유전자 수 예측은 인간 단백질 암호화 유전자의 총 수에 대한 하한을 나타낸다.[4]
분석
단백질 암호화 유전자
비암호화 RNA 유전자
슈도진
소스
출시일
CCDS
1,961
—
—
[5] 2016-09-08
HGNC
1,993
707
1,113
[6] 2017-05-12
Ensembl
2,044
1,924
1,223
[7] 2017-03-29
UniProt
2,064
—
—
[8] 2018-02-28
NCBI
2,093
1,790
1,426
[9] [10] [11] 2017-05-19
유전자 목록 [ 편집 ] 다음은 인간 1번 염색체에 있는 유전자의 일부 목록이다. 전체 목록은 오른쪽 정보 상자의 링크를 참조하라.
p-arm [ 편집 ] 인간 1번 염색체의 p-arm (short arm)에 위치한 유전자의 일부 목록이다.
AADACL3 : Arylacetamide deacetylase-like 3AADACL4 : Arylacetamide deacetylase-like 4ACADM : acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chainACTG1P6 : encoding protein Actin, gamma 1 pseudogene 6ACTL8 : Actin-like 8ADGRL2 (1p31.1): adhesion G protein-coupled receptor L2ADPRHL2 : Poly(ADP-ribose) glycohydrolase ARH3AMPD2 : encoding enzyme AMP deaminase 2ARID1A (1p36)ATXN7L2 : Ataxin 7-like 2AZIN2 : encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC)BCAS2 : Breast carcinoma amplified sequence 2BCL10 (1p22)BCL2L15 (1p13)LRIF1 : encoding protein Ligand-dependent nuclear receptor-interacting factor 1C1orf109 : chromosome 1 open reading frame 109CZIB : chromosome 1 open reading frame 123CACHD1 encoding protein Cache domain containing 1CAMTA1 (1p36)CASP9 (1p36)CASZ1 (1p36): Castor zinc finger 1CSDE1 : Cold shock domain containing E1CHD5 (1p36)CLIC4 (1p36)CLSPN (1p34)CMPK : UMP-CMP kinaseCOL16A1 (1p35)COL11A1 : collagen, type XI, alpha 1CPT2 : carnitine palmitoyltransferase IICRYZ : Crystallin zetaCYP4B1 (1p33)CYR61 (1p22)DBT : dihydrolipoamide branched chain transacylase E2DCLRE1B : DNA cross-link repair 1BDEPDC1 encoding protein DEP domain containing 1DIRAS3 (1p31): DIRAS family, GTP-binding RAS-like 3DPH5 : Diphthine synthaseDVL1 (1p36)ENO1 (1p36)EPHA2 (1p36)EPS15 (1p32)ESPN : espin (autosomal recessive deafness 36)EVI5 : ecotropic viral integration site 5EXTL1 : exostosin like glycosyltransferase 1EXTL2 : exostosin like glycosyltransferase 2FAM46B : family with sequence similarity 46, member BFAM46C : family with sequence similarity 46, member CFAM76A : family with sequence similarity 76, member AFBXO2 : F-box protein 2FNBP1L encoding protein Formin-binding protein 1-likeFPGT : Fucose-1-phosphate guanylyltransferaseFUBP1 (1p31)GALE : UDP-galactose-4-epimeraseGADD45A (1p31)GBP1 (1p22)GBP2 : guanylate binding protein 2GBP5 encoding protein Guanylate binding protein 5GJB3 : gap junction protein, beta 3, 31kDa (connexin 31)GLMN (1p22)GNL2 : G protein nucleolar 2GSTM1 (1p13)HDAC1 (1p35)HES2 : Hes family bHLH transcription factor 2HES3 : Hes family bHLH transcription factor 3HMGCL : 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)HAO2 encoding protein Hydroxyacid oxidase 2HMGCS2 : 3-hydroxy-3-methylglutaryl-CoA synthase 2HP1BP3 : Heterochromatin protein 1, binding protein 3IFI6 : Interferon alpha-inducible protein 6IL22RA1 (1p36)INTS11 : Integrator complex subunit 11JAK1 (1p31)JUN (1p32)KCNQ4 : potassium voltage-gated channel, KQT-like subfamily, member 4KIF1B : kinesin family member 1BL1TD1 : LINE-1 type transposase domain containing 1LCK (1p35)LINC01137 : encoding protein Long intergenic non-protein coding RNA 1137LRRC39 : Leucine-rich repeat-containing protein 39LRRC40 : Leucine-rich repeat-containing protein 40LRRC41 : Leucine-rich repeat-containing protein 41LRRC8D : Leucine-rich repeat-containing protein 8DMAN1A2 : Mannosyl-oligosaccharide 1,2-alpha-mannosidase IBMEAF6 : MYST/ESA1 associated factor 6MECR : Trans-2-enoyl-CoA reductase, mitochondrialMFAP2 : Microfibrillar-associated protein 2MIB2 (1p36)MIER1 (1p31)MFN2 : mitofusin 2MFSD2 : Major facilitator superfamily domain containing 2AMIR6079 : microRNA 6079MMEL1 : Membrane metallo-endopeptidase-like 1MTFR1L : mitochondrial fission regulator 1 likeMTHFR (1p36): 5,10-methylenetetrahydrofolate reductase (NADPH)MUL1 : Mitochondrial E3 ubiquitin protein ligase 1MUTYH (1p34): mutY homolog (E. coli)NBPF3 : Neuroblastoma breakpoint family member 3NDUFA4P1 : encoding protein Nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kda, pseudogene 1NGF : Nerve Growth FactorNOL9 : Nucleolar protein 9NRAS (1p13)NOTCH2 (1p12)OLFML3 : Olfactomedin-like 3OMA1 : Metalloendopeptidase OMA1, mitochondrialOVGP1 : Oviductal glycoprotein 1PARK7 (1p36): Parkinson disease (autosomal recessive, early onset) 7PINK1 : PTEN induced putative kinase 1PLOD1 : procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1PRMT6 : Protein arginine methyltransferase 6PSRC1 : Proline/serine-rich coiled-coil protein 1RAD54L : RAD54-likeRAP1A (1p13)RBM15 (1p13)RCC2 : Regulator of chromosome condensation 2REG4 (1p12)RHBDL2 : Rhomboid like 2RHOC (1p13)RLF : rearranged L-myc fusionRNF11 (1p32)RNF220 : RING finger protein 220RPA2 (1p35)RSPO1 (1p34)S100A1 (1q21)SAMD11 : encoding protein Sterile alpha motif domain containing 11SDC3 : Syndecan-3SDHB (1p36)SFPQ (1p34)SGIP1 : SH3 domain GRB2-like protein 3-interaction protein 1SH3BGRL3 : SH3 domain-binding glutamic acid-rich-like protein 3SLC16A1 (1p13)SPSB1 : SPRY domain-containing SOCS box protein 1STIL (1p33)SYCP1 : Synaptonemal complex protein 1SZT2 : Seizure threshold 2 homologTACSTD2 : tumor-associated calcium signal transducer 2TAL1 (1p33)TCTEX1D4 : encoding protein Tctex1 domain containing 4TCEB3 : Transcription elongation factor B polypeptide 3TGFBR3 (1p22)THRAP3 (1p34)TIE1 (1p34)TMCO2 : encoding protein transmembrane and coiled-coil domains 2TMCO4 : encoding protein transmembrane and coiled-coil domains 4TMEM48 : encoding protein nucleoporin NDC1 TMEM50A : Transmembrane protein 50ATMEM59 : Transmembrane protein 59TMEM69 : Transmembrane protein 69TMEM201 encoding protein Transmembrane protein 201TMEM222 : Transmembrane protein 222TOE1 : Target of EGR1 protein 1TRAPPC3 : Trafficking protein particle complex subunit 3TRIT1 : tRNA isopentenyltransferase, mitochondrialTSHB : thyroid stimulating hormone, betaTTC39A : Tetratricopeptide repeat 39AUBR4 : E3 ubiquitin-protein ligase component n-recognin 4UROD : uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda )USP1 (1p31)USP48 : Ubiquitin carboxyl-terminal hydrolase 48VAV3 (1p13)VPS13D : Vacuolar protein sorting-associated protein 13DVTCN1 (1p13)WARS2 : Tryptophanyl-tRNA synthetase, mitochondrialWDR77 (1p13)YBX1 (1p34)ZCCHC17 : zinc finger CCHC-type containing 17 ZMYM1 encoding protein Zinc finger MYM-type containing 1ZNF436 : Zinc finger protein 436ZYG11B encoding protein Zyg-11 family member B, cell cycle regulatorZZZ3 : ZZ-type zinc finger-containing protein 3
q-arm [ 편집 ] 인간 1번 염색체의 q-arm (long arm)에 있는 유전자의 일부 목록이다.
ABL2 (1q25)ADIPOR1 (1q32)AHCTF1 : encoding protein ELYSAKT3 (1q43-44)ANGPTL1 : Angiopoietin-related protein 1ARHGEF2 (1q22)ARID4B : encoding protein AT-rich interactive domain-containing protein 4BARV1 encoding protein ARV1 homolog (S. cerevisiae)ARNT (1q21)ASPM (1q31): a brain size determinantATF3 (1q32)ATP2B4 (1q32)BCL9 (1q21)CATSPERE : encoding protein Catsper channel auxiliary subunit epsilonC1orf21 : chromosome 1 open reading frame 21MMTAP2 encoding protein Multiple myeloma tumor-associated protein 2TEX35 : TEX35C1orf74 : chromosome 1 open reading frame 74C2CD4D : C2 calcium-dependent domain-containing 4DCD5L : CD5 molecule likeCENPL : Centromere protein LCENPF (1q41)CHTOP : Chromatin target of prmt1CNIH4 : cornichon homolog 4CNST : ConsortinCREG1 : Cellular repressor of E1A stimulated genes 1CRP : C-reactive proteinCRTC2 (1q21)CSRP1 : Cysteine and glycine rich protein 1DCAF8 : encoding protein DDB1 and CUL4 associated factor 8DDX59 : DEAD-box helicase 59DEL1Q21 : encoding protein Chromosome 1q21.1 deletion syndromeDPT : DermatopontinDISC2 , long non-coding RNA DNAH14 encoding protein Dynein, axonemal, heavy chain 14DUSP10 (1q41)DUSP27 : encoding protein Dual specificity phosphatase 27 (putative)ECM1 (1q21)EDEM3 : ER degradation enhancing alpha-mannosidase like protein 3EGLN1 (1q42)ENAH (1q42)ESRRG (1q41)FAM163A : encoding protein neuroblastoma-derived secretory proteinFAM20B : FAM20B, glycosaminoglycan xylosylkinaseFAM63A : Family with sequence similarity 63, member AFAM78B : family with sequence similarity 78, member BFAM129A : family with sequence similarity 129, member AFBXO28 : F-box protein 28FCMR : Fc fragment of IgM receptorFCGR2B (1q23)FCGR2C : encoding protein Fc fragment of igg receptor iic (gene/pseudogene)FH (1q43): fumarase FMO3 : flavin containing monooxygenase 3FRA1J encoding protein Fragile site, 5-azacytidine type, common, fra(1)(q12)G0S2 : encoding G0/G1 switch 2GAS5 (1q25)GBA : glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease )GBAP1 : glucosylceramidase beta pseudogene 1GLC1A : gene for glaucoma GON4L : gon-4 likeGPA33 (1q24)GPR37L1 G protein-coupled receptor 37 like 1HEATR1 : HEAT repeat-containing protein 1HFE2 : hemochromatosis type 2 (juvenile)HIST2H2AB : Histone 2A type 2-BHIST2H2BF : Histone H2B type 2-FHIST2H3PS2 : Histone cluster 2, H3, pseudogene 2HIST3H2A : Histone H2A type 3HIST3H2BB : Histone H2B type 3-BHPC1 : gene for prostate cancer HRM2 : Hair, curlyIGSF8 (1q23)INAVA : Innate immunity activator proteinINTS3 : Integrator complex subunit 3IRF6 : gene for connective tissue formationKCNH1 (1q32)KIF14 (1q32)LEFTY1 : Left-right determination factor 1LHX9 encoding protein LIM homeobox 9LMNA : lamin A/CLOC645166 encoding protein Lymphocyte-specific protein 1 pseudogeneLYPLAL1 : Lysophospholipase-like 1MAPKAPK2 (1q32)MIR194-1 : microRNA 194-1MIR5008 : microRNA 5008MPC2 : Mitochondrial pyruvate carrier 2MOSC1 : MOCO sulphurase C-terminal domain containing 1MOSC2 : MOSC domain-containing protein 2, mitochondrialMPZ : myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)MSTO1 : misato 1MTR : 5-methyltetrahydrofolate-homocysteine methyltransferaseNAV1 : Neuron navigator 1NBPF16 : Neuroblastoma breakpoint family, member 16NOC2L : Nucleolar complex protein 2 homologNUCKS1 : Nuclear ubiquitous casein and cyclin-dependent kinases substrateNVL : Nuclear valosin-containing protein-likeOLFML2B : Olfactomedin-like 2BOPTC : OpticinOTUD7B : OTU domain-containing protein 7BPACERR encoding protein PTGS2 antisense NFKB1 complex-mediated expression regulator RNAPBX1 (1q23)PEA15 (1q23)PGDB5 : PiggyBac transposable element derived 5PIAS3 (1q21)PI4KB : Phosphatidylinositol 4-kinase betaPIP5K1A (1q21): Phosphatidylinositol-4-phosphate 5-kinase type-1 alphaPLA2G4A (1q31)PPOX : protoporphyrinogen oxidasePRCC (1q23)PRR9 encoding protein Proline rich 9PSEN2 (1q42): presenilin 2 (Alzheimer disease 4)PTGS2 (1q31)PTPN14 (1q32-41)PTPN7 (1q32)RABIF : RAB interacting factorRASSF5 (1q32)RGS2 (1q31)RN5S1@ : RNA, 5S ribosomal 1q42 clusterRPS27 (1q21)SCAMP3 : Secretory carrier-associated membrane protein 3SDHC (1q23)SELE (1q24)SHC1 (1q21)SLC39A1 (1q21)SLC50A1 : Solute carrier family 50 member 1SMCP : Sperm mitochondrial-associated cysteine-rich proteinSMG7 : nonsense mediated mRNA decay factorSMYD3 (1q44)SPG23 SPRR1A : Cornifin-ASPRR1B : Cornifin-BSPRR2A : Small proline rich protein 2ASPRTN : SpartanTARBP1 : TAR (HIV-1) RNA-binding protein 1TBCE : Tubulin-specific chaperone ETHBS3 : Thrombospondin 3TMCO1 : Transmembrane and coiled-coil domain-containing protein 1TMEM9 : Transmembrane protein 9TMEM63A : Transmembrane protein 63ATMEM81 : Transmembrane protein 81TNFAIP8L2 : encoding TNF alpha induced protein 8 like 2TNFSF18 (1q25)TNN (1q25)TNNT2 : cardiac troponin T2TOR1AIP1 : Torsin-1A-interacting protein 1TOR3A : encoding protein Torsin family 3 member ATP53BP2 (1q41)TRE-CTC1-5 : Transfer RNA-Glu (CTC) 1-5TRP (1q31)UAP1 : UDP-N-acetylhexosamine pyrophosphorylaseUSH2A : Usher syndrome 2A (autosomal recessive, mild)USF1 (1q23)VANGL2 : encoding protein VANGL planar cell polarity protein 2VPS45 : Vacuolar protein sorting-associated protein 45VPS72 : Vacuolar protein sorting-associated protein 72YY1AP1 : YY1-associated protein 1ZBED6 : zinc finger, BED-type containing 6ZC3H11A : Zinc finger CCCH domain-containing protein 11AZNF648 encoding protein Zinc finger protein 648ZNF669 : Zinc finger protein 669ZNF687 : Zinc finger protein 687ZNF692 : Zinc finger protein 692ZNF695 : Zinc finger protein 695
질병 및 장애 [ 편집 ] 이 염색체와 관련된 알려진 질병은 890가지이다. 이러한 질병 중 일부는 청각 장애 , 알츠하이머병 , 녹내장 및 유방암 이다. 1번 염색체의 재배열 및 돌연변이는 암 및 기타 많은 질병에서 만연하다. 서열 변이의 패턴은 인간의 건강에 기여할 수 있는 특정 유전자의 최근 선택 신호와 기능이 명확하지 않은 영역을 나타낸다.
완전한 일염색체성 (전체 염색체의 사본이 하나만 있음)은 출생 전에 항상 치명적이다.[12] [12] 선천적 장애 를 생성한다.
다음 질병은 1번 염색체의 유전자와 관련된 질병 중 일부이다. (인간 염색체 중 가장 잘 알려진 유전성 질환 포함)
세포유전학적 밴드 [ 편집 ]
G-banding ideogram of human chromosome 1 in resolution 850
bphs . Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g.
Ensembl ,
UCSC Genome Browser ).
G-banding patterns of human chromosome 1 in three different resolutions (400,
[13] 550
[14] and 850
[15] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[16] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[17]
G-bands of human chromosome 1 in resolution 850 bphs
Chr.
Arm
Band
ISCN
ISCN[18]
Basepair
Basepair
Stain
Density
1
p
36.33
0
100
300 000 gneg
1
p
36.32
100
244
300 001 300 000 gpos
25
1
p
36.31
244
344
300 001 100 000 gneg
1
p
36.23
344
459
100 001 100 000 gpos
25
1
p
36.22
459
660
100 001 500 000 gneg
1
p
36.21
660
861
500 001 900 000 gpos
50
1
p
36.13
861
1206
900 001 100 000 gneg
1
p
36.12
1206
1321
100 001 600 000 gpos
25
1
p
36.11
1321
1521
600 001 600 000 gneg
1
p
35.3
1521
1651
600 001 900 000 gpos
25
1
p
35.2
1651
1780
900 001 300 000 gneg
1
p
35.1
1780
1895
300 001 300 000 gpos
25
1
p
34.3
1895
2210
300 001 600 000 gneg
1
p
34.2
2210
2411
600 001 700 000 gpos
25
1
p
34.1
2411
2770
700 001 300 000 gneg
1
p
33
2770
2986
300 001 200 000 gpos
75
1
p
32.3
2986
3273
200 001 600 000 gneg
1
p
32.2
3273
3416
600 001 500 000 gpos
50
1
p
32.1
3416
3732
500 001 800 000 gneg
1
p
31.3
3732
3976
800 001 500 000 gpos
50
1
p
31.2
3976
4206
500 001 300 000 gneg
1
p
31.1
4206
4852
300 001 400 000 gpos
100
1
p
22.3
4852
5210
400 001 900 000 gneg
1
p
22.2
5210
5440
900 001 500 000 gpos
75
1
p
22.1
5440
5741
500 001 300 000 gneg
1
p
21.3
5741
5957
300 001 300 000 gpos
75
1
p
21.2
5957
6029
300 001 800 000 gneg
1
p
21.1
6029
6244
800 001 700 000 gpos
100
1
p
13.3
6244
6459
700 001 200 000 gneg
1
p
13.2
6459
6660
200 001 500 000 gpos
50
1
p
13.1
6660
6861
500 001 200 000 gneg
1
p
12
6861
7048
200 001 400 000 gpos
50
1
p
11.2
7048
7119
400 001 700 000 gneg
1
p
11.1
7119
7335
700 001 400 000 acen
1
q
11
7335
7579
400 001 100 000 acen
1
q
12
7579
8483
100 001 200 000 gvar
1
q
21.1
8483
8756
200 001 500 000 gneg
1
q
21.2
8756
8957
500 001 600 000 gpos
50
1
q
21.3
8957
9244
600 001 100 000 gneg
1
q
22
9244
9459
100 001 600 000 gpos
50
1
q
23.1
9459
9832
600 001 100 000 gneg
1
q
23.2
9832
10048
100 001 500 000 gpos
50
1
q
23.3
10048
10349
500 001 500 000 gneg
1
q
24.1
10349
10507
500 001 200 000 gpos
50
1
q
24.2
10507
10679
200 001 900 000 gneg
1
q
24.3
10679
10894
900 001 000 000 gpos
75
1
q
25.1
10894
11009
000 001 100 000 gneg
1
q
25.2
11009
11196
100 001 300 000 gpos
50
1
q
25.3
11196
11598
300 001 800 000 gneg
1
q
31.1
11598
11827
800 001 800 000 gpos
100
1
q
31.2
11827
11942
800 001 800 000 gneg
1
q
31.3
11942
12172
800 001 700 000 gpos
100
1
q
32.1
12172
12617
700 001 100 000 gneg
1
q
32.2
12617
12803
100 001 300 000 gpos
25
1
q
32.3
12803
13033
300 001 400 000 gneg
1
q
41
13033
13320
400 001 900 000 gpos
100
1
q
42.11
13320
13406
900 001 400 000 gneg
1
q
42.12
13406
13607
400 001 800 000 gpos
25
1
q
42.13
13607
13966
800 001 500 000 gneg
1
q
42.2
13966
14153
500 001 600 000 gpos
50
1
q
42.3
14153
14397
600 001 400 000 gneg
1
q
43
14397
14756
400 001 500 000 gpos
75
1
q
44
14756
15100
500 001 956 422 gneg
↑ http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.↑ “The DNA sequence and biological annotation of human chromosome 1”. 《Nature》 441 (7091): 315–21. May 2006. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 . PMID 16710414 . ↑ 1번 단완 염색체 결실 증후군 네이버 지식백과-건강백과↑ Pertea M, Salzberg SL (2010). “Between a chicken and a grape: estimating the number of human genes.” . 《Genome Biol》 11 (5): 206. doi :10.1186/gb-2010-11-5-206 . PMC 2898077 . PMID 20441615 . ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene” . 《NCBI》. 2016년 9월 8일. 2017년 5월 28일에 확인함 . ↑ “Statistics & Downloads for chromosome 1” . 《HUGO Gene Nomenclature Committee》. 2017년 5월 12일. 2017년 5월 19일에 확인함 . ↑ “Chromosome 1: Chromosome summary - Homo sapiens” . 《Ensembl Release 88》. 2017년 3월 29일. 2017년 5월 19일에 확인함 . ↑ “Human chromosome 1: entries, gene names and cross-references to MIM” . 《UniProt》. 2018년 2월 28일. 2018년 3월 16일에 확인함 . ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene” . 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함 . ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene” . 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함 . ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene” . 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함 . ↑ 가 나 Gersen, Steven L.; Keagle, Martha B. (2013년 3월 26일). 《The Principles of Clinical Cytogenetics》 (영어). Springer Science & Business Media. 278쪽. ISBN 9781441916884 ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3) . Last update 2014-03-04. Retrieved 2017-04-26.
↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3) . Last update 2015-08-11. Retrieved 2017-04-26.
↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26.
↑ International Standing Committee on Human Cytogenetic Nomenclature (2013). 《ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)》 . Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7 ↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). “Estimation of band level resolutions of human chromosome images” . 《In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on》: 276–282. doi :10.1109/JCSSE.2012.6261965 . ISBN 978-1-4673-1921-8 ↑ These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit .
