COLGALT1 (collagen beta(1-O)galactosyltransferase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: COLGALT1 (collagen beta(1-O)galactosyltransferase 1) Homo sapiens
Analyze
Symbol: COLGALT1
Name: collagen beta(1-O)galactosyltransferase 1
RGD ID: 1344980
HGNC Page HGNC
Description: Enables procollagen galactosyltransferase activity. Involved in positive regulation of collagen fibril organization. Located in endoplasmic reticulum lumen.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BSVD3; ColGalT 1; FLJ22329; GLT25D1; glycosyltransferase 25 domain containing 1; glycosyltransferase 25 family member 1; hydroxylysine galactosyltransferase 1; MGC117270; Procollagen galactosyltransferase; procollagen galactosyltransferase 1
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 Ensembl1917,555,649 - 17,583,162 (+)EnsemblGRCh38hg38GRCh38
GRCh381917,555,649 - 17,583,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371917,666,458 - 17,693,966 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,527,511 - 17,554,965 (+)NCBINCBI36hg18NCBI36
Build 341917,527,510 - 17,554,965NCBI
Celera1917,568,107 - 17,595,621 (+)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,231,483 - 17,258,727 (+)NCBIHuRef
CHM1_11917,665,853 - 17,693,302 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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:2283726   PMID:2341393   PMID:2649653   PMID:8125298   PMID:8218172   PMID:14702039   PMID:16303743   PMID:19075007   PMID:19322201   PMID:19946888   PMID:20470363   PMID:21873635  
PMID:21942715   PMID:22190034   PMID:22216269   PMID:22268729   PMID:22304920   PMID:22939629   PMID:23097496   PMID:24457600   PMID:25921289   PMID:26344197   PMID:26496610   PMID:26638075  
PMID:26687479   PMID:27025967   PMID:27342126   PMID:27402836   PMID:27609421   PMID:27880917   PMID:28428430   PMID:28514442   PMID:28515276   PMID:28902428   PMID:29117863   PMID:29128334  
PMID:29229926   PMID:29467282   PMID:30822656   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31091453   PMID:31586073   PMID:32353859   PMID:32409323   PMID:32780723   PMID:33060197  
PMID:33957083   PMID:33984770   PMID:34079125  


Genomics

Comparative Map Data
COLGALT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1917,555,649 - 17,583,162 (+)EnsemblGRCh38hg38GRCh38
GRCh381917,555,649 - 17,583,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371917,666,458 - 17,693,966 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,527,511 - 17,554,965 (+)NCBINCBI36hg18NCBI36
Build 341917,527,510 - 17,554,965NCBI
Celera1917,568,107 - 17,595,621 (+)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,231,483 - 17,258,727 (+)NCBIHuRef
CHM1_11917,665,853 - 17,693,302 (+)NCBICHM1_1
Colgalt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39872,063,631 - 72,077,555 (+)NCBIGRCm39mm39
GRCm39 Ensembl872,063,642 - 72,077,555 (+)Ensembl
GRCm38871,610,042 - 71,624,911 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl871,610,998 - 71,624,911 (+)EnsemblGRCm38mm10GRCm38
MGSCv37874,134,923 - 74,148,810 (+)NCBIGRCm37mm9NCBIm37
MGSCv36874,539,985 - 74,553,900 (+)NCBImm8
Celera874,125,330 - 74,139,192 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
Colgalt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21618,319,796 - 18,332,106 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1618,319,795 - 18,332,106 (+)Ensembl
Rnor_6.01620,039,969 - 20,052,277 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1620,039,969 - 20,052,276 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01619,900,825 - 19,913,463 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41618,810,962 - 18,823,237 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11618,810,896 - 18,822,079 (+)NCBI
Celera1618,523,483 - 18,535,763 (+)NCBICelera
Cytogenetic Map16p14NCBI
Colgalt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955524774,737 - 783,310 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955524773,997 - 782,911 (-)NCBIChiLan1.0ChiLan1.0
COLGALT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11918,013,774 - 18,045,078 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,013,831 - 18,043,364 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01917,042,743 - 17,070,333 (+)NCBIMhudiblu_PPA_v0panPan3
COLGALT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12045,250,948 - 45,272,887 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2045,251,842 - 45,272,875 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2045,164,993 - 45,186,465 (-)NCBI
ROS_Cfam_1.02045,737,945 - 45,759,442 (-)NCBI
UMICH_Zoey_3.12044,974,508 - 44,995,991 (-)NCBI
UNSW_CanFamBas_1.02045,384,505 - 45,406,042 (-)NCBI
UU_Cfam_GSD_1.02045,660,605 - 45,682,074 (-)NCBI
Colgalt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,828,666 - 203,846,896 (-)NCBI
SpeTri2.0NW_0049365963,377,805 - 3,395,124 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COLGALT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl260,138,303 - 60,197,611 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1260,138,303 - 60,166,751 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,808,129 - 59,832,256 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COLGALT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1616,040,532 - 16,066,298 (+)NCBI
ChlSab1.1 Ensembl616,040,583 - 16,066,565 (+)Ensembl
Vero_WHO_p1.0NW_0236660743,356,302 - 3,381,855 (-)NCBI
Colgalt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624908497,898 - 510,128 (-)NCBI

Position Markers
D19S1017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,692,525 - 17,692,652UniSTSGRCh37
Build 361917,553,525 - 17,553,652RGDNCBI36
Celera1917,594,181 - 17,594,308RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,257,288 - 17,257,415UniSTS
GeneMap99-GB4 RH Map1999.92UniSTS
Whitehead-RH Map1989.0UniSTS
D19S667E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,692,503 - 17,692,604UniSTSGRCh37
Build 361917,553,503 - 17,553,604RGDNCBI36
Celera1917,594,159 - 17,594,260RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,257,266 - 17,257,367UniSTS
D19S622E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,679,340 - 17,679,463UniSTSGRCh37
Build 361917,540,340 - 17,540,463RGDNCBI36
Celera1917,580,937 - 17,581,060RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,244,145 - 17,244,268UniSTS
GeneMap99-GB4 RH Map1996.92UniSTS
NCBI RH Map19122.6UniSTS
STS-AA028143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,693,704 - 17,693,925UniSTSGRCh37
Build 361917,554,704 - 17,554,925RGDNCBI36
Celera1917,595,360 - 17,595,581RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,258,466 - 17,258,687UniSTS
GeneMap99-GB4 RH Map1998.54UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2348
Count of miRNA genes:977
Interacting mature miRNAs:1190
Transcripts:ENST00000252599, ENST00000593832, ENST00000597075, ENST00000597147, ENST00000600474, ENST00000601354
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 2439 2911 1700 603 1933 444 4155 1932 2930 386 1460 1609 175 1 1204 2586 6 2
Low 80 26 21 18 21 202 265 804 33 4 202
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_024656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC081531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU628916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS051385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252599   ⟹   ENSP00000252599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,555,649 - 17,583,157 (+)Ensembl
RefSeq Acc Id: ENST00000593832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,579,951 - 17,583,162 (+)Ensembl
RefSeq Acc Id: ENST00000597075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,577,075 - 17,580,870 (+)Ensembl
RefSeq Acc Id: ENST00000597147   ⟹   ENSP00000468947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,568,613 - 17,580,806 (+)Ensembl
RefSeq Acc Id: ENST00000600474   ⟹   ENSP00000469817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,556,561 - 17,568,577 (+)Ensembl
RefSeq Acc Id: ENST00000601354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,566,033 - 17,571,924 (+)Ensembl
RefSeq Acc Id: NM_024656   ⟹   NP_078932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,555,649 - 17,583,157 (+)NCBI
GRCh371917,666,511 - 17,693,968 (+)NCBI
Build 361917,527,511 - 17,554,965 (+)NCBI Archive
Celera1917,568,107 - 17,595,621 (+)RGD
HuRef1917,231,483 - 17,258,727 (+)RGD
CHM1_11917,665,745 - 17,693,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260080   ⟹   XP_005260137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,556,521 - 17,583,159 (+)NCBI
GRCh371917,666,511 - 17,693,968 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528297   ⟹   XP_011526599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,557,427 - 17,583,159 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528298   ⟹   XP_011526600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,556,561 - 17,583,159 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528299   ⟹   XP_011526601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,560,385 - 17,583,159 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_078932   ⟸   NM_024656
- Peptide Label: precursor
- UniProtKB: Q8NBJ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005260137   ⟸   XM_005260080
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526600   ⟸   XM_011528298
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526599   ⟸   XM_011528297
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526601   ⟸   XM_011528299
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000252599   ⟸   ENST00000252599
RefSeq Acc Id: ENSP00000468947   ⟸   ENST00000597147
RefSeq Acc Id: ENSP00000469817   ⟸   ENST00000600474

Promoters
RGD ID:6795440
Promoter ID:HG_KWN:29256
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000252599,   ENST00000379714
Position:
Human AssemblyChrPosition (strand)Source
Build 361917,527,201 - 17,527,727 (+)MPROMDB
RGD ID:6795597
Promoter ID:HG_KWN:29258
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC010EAY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361917,551,544 - 17,552,044 (+)MPROMDB
RGD ID:7239055
Promoter ID:EPDNEW_H25274
Type:initiation region
Name:GLT25D1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,555,682 - 17,555,742EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1 copy number loss See cases [RCV000141610] Chr19:17308207..17705382 [GRCh38]
Chr19:17419016..17816191 [GRCh37]
Chr19:17280016..17677191 [NCBI36]
Chr19:19p13.11
uncertain significance
GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1 copy number loss See cases [RCV000143571] Chr19:17246895..17730147 [GRCh38]
Chr19:17357704..17840956 [GRCh37]
Chr19:17218704..17701956 [NCBI36]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3 copy number gain See cases [RCV000240346] Chr19:17514059..17899363 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1 copy number loss not provided [RCV000487468] Chr19:15970389..17893528 [GRCh37]
Chr19:19p13.12-13.11
pathogenic
GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1 copy number loss See cases [RCV000511154] Chr19:17325373..17840956 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg) single nucleotide variant Brain small vessel disease 3 [RCV000761581] Chr19:17560428 [GRCh38]
Chr19:17671237 [GRCh37]
Chr19:19p13.11
pathogenic
NM_024656.4(COLGALT1):c.1096del (p.Glu366fs) deletion Brain small vessel disease 3 [RCV000761582] Chr19:17577429 [GRCh38]
Chr19:17688238 [GRCh37]
Chr19:19p13.11
pathogenic
NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro) single nucleotide variant Brain small vessel disease 3 [RCV000761583] Chr19:17560436 [GRCh38]
Chr19:17671245 [GRCh37]
Chr19:19p13.11
pathogenic
NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg) single nucleotide variant Brain small vessel disease 3 [RCV000761584] Chr19:17577463 [GRCh38]
Chr19:17688272 [GRCh37]
Chr19:19p13.11
pathogenic
NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro) single nucleotide variant Brain small vessel disease 3 [RCV001175209] Chr19:17555886 [GRCh38]
Chr19:17666695 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_024656.4(COLGALT1):c.273C>T (p.Asp91=) single nucleotide variant not provided [RCV000996821] Chr19:17559323 [GRCh38]
Chr19:17670132 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic
NM_024656.4(COLGALT1):c.888C>T (p.Arg296=) single nucleotide variant not provided [RCV001311503] Chr19:17572541 [GRCh38]
Chr19:17683350 [GRCh37]
Chr19:19p13.11
likely benign
NM_024656.4(COLGALT1):c.648C>T (p.Ala216=) single nucleotide variant not provided [RCV001531453] Chr19:17568532 [GRCh38]
Chr19:17679341 [GRCh37]
Chr19:19p13.11
likely benign
GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3 copy number gain not provided [RCV001259369] Chr19:17639605..17992841 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_024656.4(COLGALT1):c.1037T>A (p.Ile346Asn) single nucleotide variant not provided [RCV001354591] Chr19:17577371 [GRCh38]
Chr19:17688180 [GRCh37]
Chr19:19p13.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26182 AgrOrtholog
COSMIC COLGALT1 COSMIC
Ensembl Genes ENSG00000130309 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000252599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468947 UniProtKB/TrEMBL
  ENSP00000469817 UniProtKB/TrEMBL
Ensembl Transcript ENST00000252599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000597147 UniProtKB/TrEMBL
  ENST00000600474 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot
GTEx ENSG00000130309 GTEx
HGNC ID HGNC:26182 ENTREZGENE
Human Proteome Map COLGALT1 Human Proteome Map
InterPro Glyco_trans_25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79709 UniProtKB/Swiss-Prot
NCBI Gene 79709 ENTREZGENE
OMIM 617531 OMIM
  618360 OMIM
Pfam Glyco_transf_25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134991138 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GT251_HUMAN UniProtKB/Swiss-Prot
  M0QX72_HUMAN UniProtKB/TrEMBL
  M0QYH0_HUMAN UniProtKB/TrEMBL
  Q8NBJ5 ENTREZGENE
UniProt Secondary Q8NC64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 COLGALT1  collagen beta(1-O)galactosyltransferase 1  GLT25D1  glycosyltransferase 25 domain containing 1  Symbol and/or name change 5135510 APPROVED