COL8A1 (collagen type VIII alpha 1 chain) - Rat Genome Database

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Gene: COL8A1 (collagen type VIII alpha 1 chain) Homo sapiens
Analyze
Symbol: COL8A1
Name: collagen type VIII alpha 1 chain
RGD ID: 1319668
HGNC Page HGNC
Description: Predicted to be an extracellular matrix structural constituent. Involved in endodermal cell differentiation. Colocalizes with collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C3orf7; cell proliferation-inducing protein 41; collagen alpha-1(VIII) chain; collagen type VIII alpha 1; collagen VIII, alpha-1 polypeptide; collagen, type VIII, alpha 1; endothelial collagen; MGC9568; smag-64; smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl399,638,475 - 99,799,226 (+)EnsemblGRCh38hg38GRCh38
GRCh38399,638,594 - 99,799,217 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37399,357,438 - 99,518,061 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363100,840,144 - 100,997,848 (+)NCBINCBI36hg18NCBI36
Build 343100,840,143 - 100,997,848NCBI
Celera397,746,575 - 97,904,287 (+)NCBI
Cytogenetic Map3q12.1NCBI
HuRef396,725,773 - 96,884,050 (+)NCBIHuRef
CHM1_1399,320,440 - 99,478,624 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylparaben  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
calcium dichloride  (EXP)
choline  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
furan  (ISO)
geldanamycin  (EXP)
genistein  (ISO)
glycidol  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methotrexate  (ISO)
methylparaben  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
okadaic acid  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
phthalaldehyde  (ISO)
poly(vinylpyrrolidone)  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (ISO)
Rebamipide  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2029894   PMID:9438378   PMID:9705353   PMID:10666376   PMID:10731515   PMID:10823842   PMID:11689488   PMID:12107410   PMID:12477932   PMID:12482545   PMID:12782141   PMID:15489334  
PMID:16189514   PMID:16344560   PMID:16713569   PMID:16936088   PMID:17721297   PMID:19060904   PMID:19913121   PMID:20379614   PMID:20385826   PMID:20551380   PMID:20628086   PMID:21139683  
PMID:21873635   PMID:23154389   PMID:23376485   PMID:23455636   PMID:23512105   PMID:23533600   PMID:23979707   PMID:24144296   PMID:24498017   PMID:25037231   PMID:25241763   PMID:25335168  
PMID:25416956   PMID:25963833   PMID:26110394   PMID:26617902   PMID:27068509   PMID:27234597   PMID:27559042   PMID:28327460   PMID:28675934   PMID:29467282   PMID:29497907   PMID:29676528  
PMID:29706360   PMID:29892012   PMID:29961565   PMID:30021884   PMID:30555071   PMID:30626261   PMID:31191752   PMID:31275967   PMID:31512979   PMID:31515488   PMID:32296183   PMID:32326527  
PMID:32850835  


Genomics

Comparative Map Data
COL8A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl399,638,475 - 99,799,226 (+)EnsemblGRCh38hg38GRCh38
GRCh38399,638,594 - 99,799,217 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37399,357,438 - 99,518,061 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363100,840,144 - 100,997,848 (+)NCBINCBI36hg18NCBI36
Build 343100,840,143 - 100,997,848NCBI
Celera397,746,575 - 97,904,287 (+)NCBI
Cytogenetic Map3q12.1NCBI
HuRef396,725,773 - 96,884,050 (+)NCBIHuRef
CHM1_1399,320,440 - 99,478,624 (+)NCBICHM1_1
Col8a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391657,444,619 - 57,575,100 (-)NCBIGRCm39mm39
GRCm39 Ensembl1657,444,621 - 57,575,100 (-)Ensembl
GRCm381657,624,256 - 57,754,737 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1657,624,258 - 57,754,737 (-)EnsemblGRCm38mm10GRCm38
MGSCv371657,624,369 - 57,754,850 (-)NCBIGRCm37mm9NCBIm37
MGSCv361657,548,056 - 57,553,783 (-)NCBImm8
Celera1657,949,273 - 58,079,512 (-)NCBICelera
Cytogenetic Map16C1.1NCBI
Col8a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21142,776,851 - 42,906,432 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1142,777,628 - 42,906,424 (+)Ensembl
Rnor_6.01144,877,690 - 45,006,203 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1144,877,859 - 45,007,891 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01148,073,158 - 48,201,421 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41143,604,994 - 43,733,870 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11143,785,922 - 43,791,642 (+)NCBI
Celera1142,573,892 - 42,702,340 (+)NCBICelera
Cytogenetic Map11q12NCBI
Col8a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554271,187,550 - 1,335,794 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554271,187,550 - 1,335,794 (+)NCBIChiLan1.0ChiLan1.0
COL8A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13103,416,557 - 103,573,617 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3103,521,159 - 103,573,617 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0396,732,445 - 96,892,726 (+)NCBIMhudiblu_PPA_v0panPan3
COL8A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1336,285,742 - 6,428,172 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl336,285,415 - 6,425,414 (+)EnsemblCanFam3.1canFam3CanFam3.1
Col8a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602150,545,175 - 150,692,760 (-)NCBI
SpeTri2.0NW_0049366303,443,085 - 3,590,430 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL8A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13159,216,138 - 159,374,504 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113159,216,138 - 159,374,718 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213169,086,122 - 169,094,141 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COL8A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12281,094,127 - 81,242,801 (-)NCBI
ChlSab1.1 Ensembl2281,091,493 - 81,242,763 (-)Ensembl
Vero_WHO_p1.0NW_02366604185,334,932 - 85,484,882 (+)NCBI
Col8a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478912,962,144 - 13,130,492 (+)NCBI

Position Markers
D3S4108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,381,851 - 99,381,982UniSTSGRCh37
Build 363100,864,541 - 100,864,672RGDNCBI36
Celera397,770,972 - 97,771,103RGD
Cytogenetic Map3q12.3UniSTS
HuRef396,750,294 - 96,750,425UniSTS
TNG Radiation Hybrid Map359671.0UniSTS
RH120564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,370,814 - 99,371,032UniSTSGRCh37
Build 363100,853,504 - 100,853,722RGDNCBI36
Celera397,759,935 - 97,760,153RGD
Cytogenetic Map3q12.3UniSTS
HuRef396,739,147 - 96,739,365UniSTS
TNG Radiation Hybrid Map359671.0UniSTS
RH122099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,404,643 - 99,404,988UniSTSGRCh37
Build 363100,887,333 - 100,887,678RGDNCBI36
Celera397,793,764 - 97,794,109RGD
Cytogenetic Map3q12.3UniSTS
HuRef396,773,093 - 96,773,438UniSTS
TNG Radiation Hybrid Map359663.0UniSTS
COL8A1_2507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,514,649 - 99,515,270UniSTSGRCh37
Build 363100,997,339 - 100,997,960RGDNCBI36
Celera397,903,778 - 97,904,399RGD
HuRef396,883,122 - 96,883,743UniSTS
SHGC-2730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,381,851 - 99,381,934UniSTSGRCh37
Build 363100,864,541 - 100,864,624RGDNCBI36
Celera397,770,972 - 97,771,055RGD
Cytogenetic Map3q12.3UniSTS
HuRef396,750,294 - 96,750,377UniSTS
D3S3071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,448,988 - 99,449,212UniSTSGRCh37
Build 363100,931,678 - 100,931,902RGDNCBI36
Celera397,838,109 - 97,838,333RGD
Cytogenetic Map3q12.3UniSTS
HuRef396,817,441 - 96,817,665UniSTS
Whitehead-RH Map3412.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3770.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2052
Count of miRNA genes:1031
Interacting mature miRNAs:1260
Transcripts:ENST00000261037, ENST00000273342, ENST00000452013, ENST00000462604, ENST00000463753, ENST00000474648, ENST00000483969
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1116 1705 812 38 30 21 1498 784 777 139 379 1388 24 1 520 1303 2
Low 1083 550 615 286 415 148 2508 1208 1132 260 848 115 143 684 1297 2 2
Below cutoff 212 702 294 295 1115 291 349 205 1824 19 233 104 7 188 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC055723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF170702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY550974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG938623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ774361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA393523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB269463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN484310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA663372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261037   ⟹   ENSP00000261037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,475 - 99,799,226 (+)Ensembl
RefSeq Acc Id: ENST00000273342   ⟹   ENSP00000273342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,596 - 99,796,733 (+)Ensembl
RefSeq Acc Id: ENST00000452013   ⟹   ENSP00000387589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,475 - 99,794,242 (+)Ensembl
RefSeq Acc Id: ENST00000462604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,707,071 - 99,744,987 (+)Ensembl
RefSeq Acc Id: ENST00000463753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,475 - 99,680,462 (+)Ensembl
RefSeq Acc Id: ENST00000474648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,475 - 99,703,618 (+)Ensembl
RefSeq Acc Id: ENST00000483969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,475 - 99,691,871 (+)Ensembl
RefSeq Acc Id: ENST00000621757   ⟹   ENSP00000482679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,622 - 99,794,508 (+)Ensembl
RefSeq Acc Id: ENST00000652472   ⟹   ENSP00000498483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl399,638,594 - 99,799,217 (+)Ensembl
RefSeq Acc Id: NM_001850   ⟹   NP_001841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38399,638,594 - 99,799,217 (+)NCBI
GRCh37399,357,440 - 99,518,061 (+)NCBI
Build 363100,840,144 - 100,997,848 (+)NCBI Archive
HuRef396,725,773 - 96,884,050 (+)NCBI
CHM1_1399,320,440 - 99,478,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020351   ⟹   NP_065084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38399,638,594 - 99,799,217 (+)NCBI
GRCh37399,357,440 - 99,518,061 (+)NCBI
Build 363100,840,144 - 100,997,848 (+)NCBI Archive
HuRef396,725,773 - 96,884,050 (+)NCBI
CHM1_1399,320,440 - 99,478,624 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001841   ⟸   NM_001850
- Peptide Label: precursor
- UniProtKB: P27658 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065084   ⟸   NM_020351
- Peptide Label: precursor
- UniProtKB: P27658 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000482679   ⟸   ENST00000621757
RefSeq Acc Id: ENSP00000387589   ⟸   ENST00000452013
RefSeq Acc Id: ENSP00000498483   ⟸   ENST00000652472
RefSeq Acc Id: ENSP00000273342   ⟸   ENST00000273342
RefSeq Acc Id: ENSP00000261037   ⟸   ENST00000261037
Protein Domains
C1q

Promoters
RGD ID:6865100
Promoter ID:EPDNEW_H5715
Type:initiation region
Name:COL8A1_2
Description:collagen type VIII alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5716  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38399,638,398 - 99,638,458EPDNEW
RGD ID:6865106
Promoter ID:EPDNEW_H5716
Type:initiation region
Name:COL8A1_1
Description:collagen type VIII alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5715  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38399,638,594 - 99,638,654EPDNEW
RGD ID:6800786
Promoter ID:HG_KWN:45670
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000309001,   OTTHUMT00000309002,   OTTHUMT00000309003,   OTTHUMT00000309004,   OTTHUMT00000309005,   UC010HPE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363100,839,881 - 100,840,381 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
NM_001850.4(COL8A1):c.584C>T (p.Pro195Leu) single nucleotide variant Malignant melanoma [RCV000065736] Chr3:99794485 [GRCh38]
Chr3:99513329 [GRCh37]
Chr3:100996019 [NCBI36]
Chr3:3q12.1
not provided
NM_001850.4(COL8A1):c.1171G>A (p.Glu391Lys) single nucleotide variant Malignant melanoma [RCV000065737] Chr3:99795072 [GRCh38]
Chr3:99513916 [GRCh37]
Chr3:100996606 [NCBI36]
Chr3:3q12.1
not provided
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31
pathogenic
GRCh38/hg38 3q12.1(chr3:99755242-100236704)x1 copy number loss See cases [RCV000137539] Chr3:99755242..100236704 [GRCh38]
Chr3:99474086..99955548 [GRCh37]
Chr3:100956776..101438238 [NCBI36]
Chr3:3q12.1
uncertain significance
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31
pathogenic|uncertain significance
GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1 copy number loss See cases [RCV000139111] Chr3:99759385..100405781 [GRCh38]
Chr3:99478229..100124625 [GRCh37]
Chr3:100960919..101607315 [NCBI36]
Chr3:3q12.1-12.2
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 copy number gain See cases [RCV000143259] Chr3:93819623..103888749 [GRCh38]
Chr3:93538467..103607593 [GRCh37]
Chr3:95021157..105090283 [NCBI36]
Chr3:3q11.1-13.11
likely pathogenic|uncertain significance
GRCh38/hg38 3q12.1(chr3:99053501-99695446)x3 copy number gain See cases [RCV000143589] Chr3:99053501..99695446 [GRCh38]
Chr3:98772345..99414290 [GRCh37]
Chr3:100255035..100896980 [NCBI36]
Chr3:3q12.1
uncertain significance
NM_020351.4(COL8A1):c.-4+17674G>T single nucleotide variant not provided [RCV000190299] Chr3:99762695 [GRCh38]
Chr3:99481539 [GRCh37]
Chr3:3q12.1
not provided
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020351.4(COL8A1):c.1605C>T (p.Pro535=) single nucleotide variant not provided [RCV000966159] Chr3:99795506 [GRCh38]
Chr3:99514350 [GRCh37]
Chr3:3q12.1
benign
NM_020351.4(COL8A1):c.673C>G (p.Arg225Gly) single nucleotide variant none provided [RCV001287614] Chr3:99794574 [GRCh38]
Chr3:99513418 [GRCh37]
Chr3:3q12.1
uncertain significance
GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1 copy number loss not provided [RCV001259224] Chr3:95563096..102371126 [GRCh37]
Chr3:3q11.2-12.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2215 AgrOrtholog
COSMIC COL8A1 COSMIC
Ensembl Genes ENSG00000144810 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261037 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000273342 UniProtKB/Swiss-Prot
  ENSP00000387589 UniProtKB/TrEMBL
  ENSP00000482679 UniProtKB/TrEMBL
  ENSP00000498483 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261037 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000273342 UniProtKB/Swiss-Prot
  ENST00000452013 UniProtKB/TrEMBL
  ENST00000621757 UniProtKB/TrEMBL
  ENST00000652472 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot
GTEx ENSG00000144810 GTEx
HGNC ID HGNC:2215 ENTREZGENE
Human Proteome Map COL8A1 Human Proteome Map
InterPro C1q_dom UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot
KEGG Report hsa:1295 UniProtKB/Swiss-Prot
NCBI Gene 1295 ENTREZGENE
OMIM 120251 OMIM
Pfam C1q UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26731 PharmGKB
PRINTS COMPLEMNTC1Q UniProtKB/Swiss-Prot
PROSITE C1Q UniProtKB/Swiss-Prot
SMART C1Q UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot
UniProt A0A087WZI0_HUMAN UniProtKB/TrEMBL
  C9JTN9_HUMAN UniProtKB/TrEMBL
  CO8A1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DN42 UniProtKB/Swiss-Prot
  Q53XI6 UniProtKB/Swiss-Prot
  Q96D07 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 COL8A1  collagen type VIII alpha 1 chain    collagen type VIII alpha 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL8A1  collagen type VIII alpha 1    collagen, type VIII, alpha 1  Symbol and/or name change 5135510 APPROVED