COL14A1 (collagen type XIV alpha 1 chain) - Rat Genome Database

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Gene: COL14A1 (collagen type XIV alpha 1 chain) Homo sapiens
Analyze
Symbol: COL14A1
Name: collagen type XIV alpha 1 chain
RGD ID: 1314064
HGNC Page HGNC
Description: Exhibits RNA binding activity. Predicted to be involved in homeostasis of number of cells within a tissue; regulation of cell growth involved in cardiac muscle cell development; and ventricular cardiac muscle tissue development. Localizes to collagen-containing extracellular matrix and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collagen alpha-1(XIV) chain; collagen type XIV alpha 1; collagen, type XIV, alpha 1; collagen, type xiv, alpha 1 (undulin); UND; undulin (fibronectin-tenascin-related)
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 Ensembl8120,059,780 - 120,373,573 (+)EnsemblGRCh38hg38GRCh38
GRCh388120,124,467 - 120,373,573 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378121,137,341 - 121,385,812 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,206,533 - 121,453,454 (+)NCBINCBI36hg18NCBI36
Celera8117,326,467 - 117,573,360 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,457,995 - 116,704,917 (+)NCBIHuRef
CHM1_18121,177,769 - 121,426,305 (+)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
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
flutamide  (ISO)
folic acid  (EXP)
fonofos  (EXP)
furan  (ISO)
genistein  (ISO)
indole-3-methanol  (ISO)
isotretinoin  (EXP)
methylmercury chloride  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
p-tert-Amylphenol  (EXP)
panobinostat  (EXP)
parathion  (EXP)
pentane-2,3-dione  (ISO)
potassium dichromate  (EXP)
progesterone  (EXP)
rofecoxib  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sunitinib  (EXP)
terbufos  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1716629   PMID:2187872   PMID:7842743   PMID:8135774   PMID:8756762   PMID:8986622   PMID:9092299   PMID:9252349   PMID:9427527   PMID:10393435   PMID:10646805   PMID:12477932  
PMID:14702039   PMID:15065570   PMID:15146197   PMID:15489334   PMID:15609093   PMID:16129687   PMID:16344560   PMID:16421571   PMID:17960519   PMID:19136672   PMID:20379614   PMID:20551380  
PMID:21832049   PMID:21873635   PMID:22261194   PMID:22573329   PMID:22658674   PMID:22972947   PMID:23376485   PMID:23414517   PMID:24324551   PMID:25037231   PMID:25317112   PMID:25840998  
PMID:26186194   PMID:27068509   PMID:27173435   PMID:28327460   PMID:28514442   PMID:28675934   PMID:29507755   PMID:30021884   PMID:30862715  


Genomics

Comparative Map Data
COL14A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8120,059,780 - 120,373,573 (+)EnsemblGRCh38hg38GRCh38
GRCh388120,124,467 - 120,373,573 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378121,137,341 - 121,385,812 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,206,533 - 121,453,454 (+)NCBINCBI36hg18NCBI36
Celera8117,326,467 - 117,573,360 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,457,995 - 116,704,917 (+)NCBIHuRef
CHM1_18121,177,769 - 121,426,305 (+)NCBICHM1_1
Col14a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391555,171,040 - 55,384,199 (+)NCBIGRCm39mm39
GRCm39 Ensembl1555,171,146 - 55,384,199 (+)Ensembl
GRCm381555,307,644 - 55,520,803 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,307,750 - 55,520,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371555,139,305 - 55,352,358 (+)NCBIGRCm37mm9NCBIm37
MGSCv361555,137,834 - 55,350,884 (+)NCBImm8
Celera1556,848,017 - 57,052,928 (+)NCBICelera
Cytogenetic Map15D1NCBI
Col14a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2786,722,093 - 86,937,215 (+)NCBI
Rnor_6.0 Ensembl795,074,236 - 95,273,298 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0795,054,877 - 95,274,073 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0795,678,302 - 95,896,126 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,801,534 - 92,032,966 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1791,835,769 - 92,067,196 (+)NCBI
Celera783,515,260 - 83,730,170 (+)NCBICelera
Cytogenetic Map7q32NCBI
Col14a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541725,579,547 - 25,774,127 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541725,579,547 - 25,774,067 (+)NCBIChiLan1.0ChiLan1.0
COL14A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18119,588,512 - 119,834,226 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,610,929 - 119,831,880 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08116,818,467 - 117,065,385 (+)NCBIMhudiblu_PPA_v0panPan3
COL14A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11319,033,423 - 19,249,189 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1319,011,897 - 19,248,568 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1319,046,227 - 19,261,948 (+)NCBI
ROS_Cfam_1.01319,362,705 - 19,578,555 (+)NCBI
UMICH_Zoey_3.11319,089,930 - 19,305,655 (+)NCBI
UNSW_CanFamBas_1.01319,189,397 - 19,405,255 (+)NCBI
UU_Cfam_GSD_1.01319,420,220 - 19,638,341 (+)NCBI
Col14a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,013,239 - 19,216,888 (-)NCBI
SpeTri2.0NW_00493647026,440,606 - 26,643,015 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL14A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl418,690,197 - 19,060,783 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1418,690,197 - 18,925,111 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2419,715,672 - 19,949,740 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL14A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,701,662 - 114,946,216 (+)NCBI
ChlSab1.1 Ensembl8114,701,664 - 114,887,483 (+)Ensembl
Col14a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,982,646 - 18,172,742 (+)NCBI

Position Markers
D8S586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,185,727 - 121,185,975UniSTSGRCh37
Build 368121,254,908 - 121,255,156RGDNCBI36
Celera8117,374,844 - 117,375,088RGD
Cytogenetic Map8q23UniSTS
HuRef8116,506,377 - 116,506,625UniSTS
Marshfield Genetic Map8128.16RGD
Marshfield Genetic Map8128.16UniSTS
deCODE Assembly Map8121.37UniSTS
Whitehead-YAC Contig Map8 UniSTS
WI-18017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,384,101 - 121,384,250UniSTSGRCh37
Build 368121,453,282 - 121,453,431RGDNCBI36
Celera8117,573,188 - 117,573,337RGD
Cytogenetic Map8q23UniSTS
HuRef8116,704,745 - 116,704,894UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS
Whitehead-RH Map8617.7UniSTS
RH66839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,279,078 - 121,279,204UniSTSGRCh37
Build 368121,348,259 - 121,348,385RGDNCBI36
Celera8117,468,169 - 117,468,295RGD
Cytogenetic Map8q23UniSTS
HuRef8116,599,725 - 116,599,851UniSTS
GeneMap99-GB4 RH Map8459.54UniSTS
COL14A1_3311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,383,506 - 121,384,324UniSTSGRCh37
Build 368121,452,687 - 121,453,505RGDNCBI36
Celera8117,572,593 - 117,573,428RGD
HuRef8116,704,150 - 116,704,968UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2294
Count of miRNA genes:881
Interacting mature miRNAs:1030
Transcripts:ENST00000247781, ENST00000297848, ENST00000309791, ENST00000432943, ENST00000434620, ENST00000440844, ENST00000498051, ENST00000523142, ENST00000537875
Prediction methods: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 1 14 12 12
Medium 1670 1683 816 139 341 79 2573 786 691 139 855 1202 64 1 1054 1581 3
Low 655 526 864 464 259 362 1705 1325 1474 239 520 249 102 150 1173 1 2
Below cutoff 32 747 32 14 801 16 56 70 1552 23 47 82 2 22 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC083495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ717750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX472674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF529353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN261527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA373565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB286127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000247781   ⟹   ENSP00000247781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,250,747 - 120,372,027 (+)Ensembl
RefSeq Acc Id: ENST00000297848   ⟹   ENSP00000297848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,125,102 - 120,373,573 (+)Ensembl
RefSeq Acc Id: ENST00000309791   ⟹   ENSP00000311809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,125,108 - 120,370,917 (+)Ensembl
RefSeq Acc Id: ENST00000432943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,125,144 - 120,277,865 (+)Ensembl
RefSeq Acc Id: ENST00000434620   ⟹   ENSP00000409461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,196,916 - 120,266,992 (+)Ensembl
RefSeq Acc Id: ENST00000440844   ⟹   ENSP00000403640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,345,446 - 120,371,081 (+)Ensembl
RefSeq Acc Id: ENST00000498051   ⟹   ENSP00000428851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,059,780 - 120,232,090 (+)Ensembl
RefSeq Acc Id: ENST00000523142   ⟹   ENSP00000429123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,196,801 - 120,216,492 (+)Ensembl
RefSeq Acc Id: ENST00000537875   ⟹   ENSP00000443974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,107,378 - 120,232,087 (+)Ensembl
RefSeq Acc Id: NM_001384947   ⟹   NP_001371876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,373,573 (+)NCBI
RefSeq Acc Id: NM_021110   ⟹   NP_066933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,373,573 (+)NCBI
GRCh378121,137,347 - 121,384,273 (+)NCBI
Build 368121,206,533 - 121,453,454 (+)NCBI Archive
HuRef8116,457,995 - 116,704,917 (+)NCBI
CHM1_18121,177,769 - 121,426,305 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716651   ⟹   XP_006716714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,141,950 - 120,373,573 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013809   ⟹   XP_016869298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,124,467 - 120,373,573 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066933   ⟸   NM_021110
- Peptide Label: isoform 1 precursor
- UniProtKB: Q05707 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716714   ⟸   XM_006716651
- Peptide Label: isoform X1
- UniProtKB: Q05707 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869298   ⟸   XM_017013809
- Peptide Label: isoform X1
- UniProtKB: Q05707 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000311809   ⟸   ENST00000309791
RefSeq Acc Id: ENSP00000297848   ⟸   ENST00000297848
RefSeq Acc Id: ENSP00000403640   ⟸   ENST00000440844
RefSeq Acc Id: ENSP00000247781   ⟸   ENST00000247781
RefSeq Acc Id: ENSP00000428851   ⟸   ENST00000498051
RefSeq Acc Id: ENSP00000443974   ⟸   ENST00000537875
RefSeq Acc Id: ENSP00000429123   ⟸   ENST00000523142
RefSeq Acc Id: ENSP00000409461   ⟸   ENST00000434620
RefSeq Acc Id: NP_001371876   ⟸   NM_001384947
- Peptide Label: isoform2 precursor
Promoters
RGD ID:7214079
Promoter ID:EPDNEW_H12786
Type:initiation region
Name:COL14A1_1
Description:collagen type XIV alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12785  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,103 - 120,125,163EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021110.4(COL14A1):c.4505C>T (p.Pro1502Leu) single nucleotide variant Variant of unknown significance [RCV000033021] Chr8:120313981 [GRCh38]
Chr8:121326220 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
NM_021110.2(COL14A1):c.540C>T (p.Phe180=) single nucleotide variant Malignant melanoma [RCV000068124] Chr8:120196894 [GRCh38]
Chr8:121209133 [GRCh37]
Chr8:121278314 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.922G>A (p.Glu308Lys) single nucleotide variant Malignant melanoma [RCV000068125] Chr8:120203753 [GRCh38]
Chr8:121215992 [GRCh37]
Chr8:121285173 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.960C>T (p.Phe320=) single nucleotide variant Malignant melanoma [RCV000068126] Chr8:120203791 [GRCh38]
Chr8:121216030 [GRCh37]
Chr8:121285211 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.1018G>A (p.Glu340Lys) single nucleotide variant Malignant melanoma [RCV000068127] Chr8:120203849 [GRCh38]
Chr8:121216088 [GRCh37]
Chr8:121285269 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.3311C>T (p.Ser1104Leu) single nucleotide variant Malignant melanoma [RCV000068128] Chr8:120278208 [GRCh38]
Chr8:121290447 [GRCh37]
Chr8:121359628 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.3434G>A (p.Arg1145Lys) single nucleotide variant Malignant melanoma [RCV000068129] Chr8:120278531 [GRCh38]
Chr8:121290770 [GRCh37]
Chr8:121359951 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.3738G>A (p.Val1246=) single nucleotide variant Malignant melanoma [RCV000068130] Chr8:120280973 [GRCh38]
Chr8:121293212 [GRCh37]
Chr8:121362393 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.4033G>A (p.Glu1345Lys) single nucleotide variant Malignant melanoma [RCV000068131] Chr8:120285926 [GRCh38]
Chr8:121298165 [GRCh37]
Chr8:121367346 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.4050G>A (p.Arg1350=) single nucleotide variant Malignant melanoma [RCV000068132] Chr8:120285943 [GRCh38]
Chr8:121298182 [GRCh37]
Chr8:121367363 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.4688G>A (p.Gly1563Glu) single nucleotide variant Malignant melanoma [RCV000068133] Chr8:120332169 [GRCh38]
Chr8:121344408 [GRCh37]
Chr8:121413589 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.4750G>A (p.Gly1584Arg) single nucleotide variant Malignant melanoma [RCV000068134] Chr8:120332700 [GRCh38]
Chr8:121344939 [GRCh37]
Chr8:121414120 [NCBI36]
Chr8:8q24.12
not provided
NM_021110.2(COL14A1):c.349+269A>T single nucleotide variant Lung cancer [RCV000106984] Chr8:120162838 [GRCh38]
Chr8:121175077 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_021110.2(COL14A1):c.4888+975G>A single nucleotide variant Lung cancer [RCV000106985] Chr8:120343421 [GRCh38]
Chr8:121355660 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_021110.4(COL14A1):c.676C>T (p.Arg226Ter) single nucleotide variant not provided [RCV000438618] Chr8:120197894 [GRCh38]
Chr8:121210133 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_021110.4(COL14A1):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV000885198] Chr8:120147858 [GRCh38]
Chr8:121160097 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.2564C>T (p.Pro855Leu) single nucleotide variant not provided [RCV000885199] Chr8:120247697 [GRCh38]
Chr8:121259936 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.3525G>A (p.Ser1175=) single nucleotide variant not provided [RCV000881358] Chr8:120279978 [GRCh38]
Chr8:121292217 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.2530C>T (p.Arg844Trp) single nucleotide variant not provided [RCV000973028] Chr8:120247663 [GRCh38]
Chr8:121259902 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.1880A>C (p.Gln627Pro) single nucleotide variant not provided [RCV000947130] Chr8:120226642 [GRCh38]
Chr8:121238881 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.4824T>C (p.Gly1608=) single nucleotide variant not provided [RCV000947131] Chr8:120342382 [GRCh38]
Chr8:121354621 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.1737+9C>T single nucleotide variant not provided [RCV000897502] Chr8:120216499 [GRCh38]
Chr8:121228738 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.1373G>A (p.Ser458Asn) single nucleotide variant not provided [RCV000966372] Chr8:120209807 [GRCh38]
Chr8:121222046 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.4518A>G (p.Gln1506=) single nucleotide variant not provided [RCV000904735] Chr8:120313994 [GRCh38]
Chr8:121326233 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.4128G>A (p.Lys1376=) single nucleotide variant not provided [RCV000925426] Chr8:120289658 [GRCh38]
Chr8:121301897 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.275A>G (p.Asp92Gly) single nucleotide variant not provided [RCV000897053] Chr8:120162495 [GRCh38]
Chr8:121174734 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.3171C>T (p.Ser1057=) single nucleotide variant not provided [RCV000965781] Chr8:120270132 [GRCh38]
Chr8:121282371 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.2603-10T>C single nucleotide variant not provided [RCV000903530] Chr8:120250607 [GRCh38]
Chr8:121262846 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.904C>T (p.Leu302=) single nucleotide variant not provided [RCV000965083] Chr8:120203735 [GRCh38]
Chr8:121215974 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.4860G>A (p.Ala1620=) single nucleotide variant not provided [RCV000923442] Chr8:120342418 [GRCh38]
Chr8:121354657 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.147A>G (p.Ser49=) single nucleotide variant not provided [RCV000924116] Chr8:120158188 [GRCh38]
Chr8:121170427 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.3407A>G (p.Lys1136Arg) single nucleotide variant not provided [RCV000961156] Chr8:120278504 [GRCh38]
Chr8:121290743 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.2061G>A (p.Thr687=) single nucleotide variant not provided [RCV000954177] Chr8:120227276 [GRCh38]
Chr8:121239515 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.3565G>A (p.Val1189Ile) single nucleotide variant not provided [RCV000954178] Chr8:120280018 [GRCh38]
Chr8:121292257 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.4486C>T (p.Leu1496=) single nucleotide variant not provided [RCV000880265] Chr8:120313962 [GRCh38]
Chr8:121326201 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.5312-6C>T single nucleotide variant not provided [RCV000892612] Chr8:120371146 [GRCh38]
Chr8:121383385 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.342A>G (p.Gln114=) single nucleotide variant not provided [RCV000893308] Chr8:120162562 [GRCh38]
Chr8:121174801 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.834A>G (p.Pro278=) single nucleotide variant not provided [RCV000963913] Chr8:120199523 [GRCh38]
Chr8:121211762 [GRCh37]
Chr8:8q24.12
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_021110.4(COL14A1):c.4668G>A (p.Pro1556=) single nucleotide variant not provided [RCV000905400] Chr8:120332149 [GRCh38]
Chr8:121344388 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.2230G>A (p.Gly744Ser) single nucleotide variant not provided [RCV000952934] Chr8:120231499 [GRCh38]
Chr8:121243738 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.1581G>A (p.Thr527=) single nucleotide variant not provided [RCV000923399] Chr8:120212561 [GRCh38]
Chr8:121224800 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.1188C>T (p.Asp396=) single nucleotide variant not provided [RCV000933259] Chr8:120207091 [GRCh38]
Chr8:121219330 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.448G>C (p.Val150Leu) single nucleotide variant not provided [RCV000952559] Chr8:120196802 [GRCh38]
Chr8:121209041 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.2550C>T (p.Asp850=) single nucleotide variant not provided [RCV000952560] Chr8:120247683 [GRCh38]
Chr8:121259922 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.2764G>A (p.Val922Ile) single nucleotide variant not provided [RCV000955396] Chr8:120255251 [GRCh38]
Chr8:121267490 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.1562A>C (p.Glu521Ala) single nucleotide variant not provided [RCV000904285] Chr8:120212542 [GRCh38]
Chr8:121224781 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.4809A>G (p.Glu1603=) single nucleotide variant not provided [RCV000973427] Chr8:120341348 [GRCh38]
Chr8:121353587 [GRCh37]
Chr8:8q24.12
benign
NM_021110.4(COL14A1):c.570G>A (p.Val190=) single nucleotide variant not provided [RCV000917856] Chr8:120196924 [GRCh38]
Chr8:121209163 [GRCh37]
Chr8:8q24.12
likely benign
NM_021110.4(COL14A1):c.2724C>T (p.Ser908=) single nucleotide variant not provided [RCV000912800] Chr8:120250738 [GRCh38]
Chr8:121262977 [GRCh37]
Chr8:8q24.12
likely benign
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2191 AgrOrtholog
COSMIC COL14A1 COSMIC
Ensembl Genes ENSG00000187955 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000247781 UniProtKB/TrEMBL
  ENSP00000297848 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000311809 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403640 UniProtKB/TrEMBL
  ENSP00000409461 UniProtKB/TrEMBL
  ENSP00000428851 UniProtKB/TrEMBL
  ENSP00000429123 UniProtKB/TrEMBL
  ENSP00000443974 UniProtKB/TrEMBL
Ensembl Transcript ENST00000247781 UniProtKB/TrEMBL
  ENST00000297848 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000309791 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434620 UniProtKB/TrEMBL
  ENST00000440844 UniProtKB/TrEMBL
  ENST00000498051 UniProtKB/TrEMBL
  ENST00000523142 UniProtKB/TrEMBL
  ENST00000537875 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187955 GTEx
HGNC ID HGNC:2191 ENTREZGENE
Human Proteome Map COL14A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7373 UniProtKB/Swiss-Prot
NCBI Gene 7373 ENTREZGENE
OMIM 120324 OMIM
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26707 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MQT7_HUMAN UniProtKB/TrEMBL
  COEA1_HUMAN UniProtKB/Swiss-Prot
  H0YBB2_HUMAN UniProtKB/TrEMBL
  J3QT75_HUMAN UniProtKB/TrEMBL
  J3QT83_HUMAN UniProtKB/TrEMBL
  L8EB32_HUMAN UniProtKB/TrEMBL
  Q05707 ENTREZGENE
  Q4G0W3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RU07 UniProtKB/Swiss-Prot
  O00260 UniProtKB/Swiss-Prot
  O00261 UniProtKB/Swiss-Prot
  O00262 UniProtKB/Swiss-Prot
  Q05708 UniProtKB/Swiss-Prot
  Q5XJ18 UniProtKB/Swiss-Prot
  Q96C67 UniProtKB/Swiss-Prot
  Q9UDF6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL14A1  collagen type XIV alpha 1 chain    collagen type XIV alpha 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL14A1  collagen type XIV alpha 1    collagen, type XIV, alpha 1  Symbol and/or name change 5135510 APPROVED