GCAT (glycine C-acetyltransferase) - Rat Genome Database

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Gene: GCAT (glycine C-acetyltransferase) Homo sapiens
Analyze
Symbol: GCAT
Name: glycine C-acetyltransferase
RGD ID: 1316396
HGNC Page HGNC:4188
Description: Predicted to enable glycine C-acetyltransferase activity; ligase activity; and pyridoxal phosphate binding activity. Predicted to be involved in biosynthetic process and threonine catabolic process. Located in mitochondrion and nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; 2-amino-3-ketobutyrate-CoA ligase; AKB ligase; aminoacetone synthase; glycine acetyltransferase; KBL; MGC23053
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GCATP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382237,807,934 - 37,817,183 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2237,807,905 - 37,817,176 (+)EnsemblGRCh38hg38GRCh38
GRCh372238,203,941 - 38,213,190 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,533,901 - 36,542,850 (+)NCBINCBI36Build 36hg18NCBI36
Build 342236,528,454 - 36,537,403NCBI
Celera2222,005,704 - 22,014,976 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,170,909 - 21,180,178 (+)NCBIHuRef
CHM1_12238,162,662 - 38,171,933 (+)NCBICHM1_1
T2T-CHM13v2.02238,269,561 - 38,278,815 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
avobenzone  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
entinostat  (EXP)
fenofibrate  (EXP)
folic acid  (ISO)
fumonisin B1  (ISO)
indole-3-methanol  (ISO)
indometacin  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP,ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3536927   PMID:10591208   PMID:10712613   PMID:12174908   PMID:12477932   PMID:15342556   PMID:15489334   PMID:17688197   PMID:20877624   PMID:21145461   PMID:21873635   PMID:21988832  
PMID:22268729   PMID:24344204   PMID:26186194   PMID:26389662   PMID:26972000   PMID:28380382   PMID:28514442   PMID:28718761   PMID:29111377   PMID:30940648   PMID:31091453   PMID:31617661  
PMID:31753913   PMID:31980649   PMID:33187986   PMID:33545068   PMID:33961781   PMID:35256949   PMID:35563538   PMID:35944360   PMID:36215168   PMID:36538041  


Genomics

Comparative Map Data
GCAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382237,807,934 - 37,817,183 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2237,807,905 - 37,817,176 (+)EnsemblGRCh38hg38GRCh38
GRCh372238,203,941 - 38,213,190 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,533,901 - 36,542,850 (+)NCBINCBI36Build 36hg18NCBI36
Build 342236,528,454 - 36,537,403NCBI
Celera2222,005,704 - 22,014,976 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,170,909 - 21,180,178 (+)NCBIHuRef
CHM1_12238,162,662 - 38,171,933 (+)NCBICHM1_1
T2T-CHM13v2.02238,269,561 - 38,278,815 (+)NCBIT2T-CHM13v2.0
Gcat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391578,915,074 - 78,926,731 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1578,915,074 - 78,922,553 (+)EnsemblGRCm39 Ensembl
GRCm39 Ensembl1578,915,101 - 78,926,731 (+)EnsemblGRCm39 Ensembl
GRCm381579,030,874 - 79,042,531 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,030,874 - 79,038,353 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,030,901 - 79,042,531 (+)EnsemblGRCm38mm10GRCm38
MGSCv371578,861,304 - 78,872,961 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361578,858,175 - 78,865,609 (+)NCBIMGSCv36mm8
Celera1581,132,500 - 81,144,160 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.7NCBI
Gcat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87112,475,572 - 112,481,920 (+)NCBIGRCr8
mRatBN7.27110,595,126 - 110,601,474 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7110,595,091 - 110,601,473 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7112,344,758 - 112,350,975 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07114,568,289 - 114,574,506 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07114,536,921 - 114,543,140 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07120,263,068 - 120,269,365 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7120,263,054 - 120,269,451 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07120,254,453 - 120,290,686 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,003,626 - 117,010,396 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17117,037,855 - 117,044,625 (+)NCBI
Celera7106,929,404 - 106,935,689 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gcat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541324,184,997 - 24,192,229 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541324,184,997 - 24,192,178 (+)NCBIChiLan1.0ChiLan1.0
GCAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22347,666,252 - 47,675,318 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12250,354,605 - 50,363,681 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02218,722,886 - 18,731,963 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12236,554,050 - 36,563,429 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2236,554,067 - 36,563,429 (+)Ensemblpanpan1.1panPan2
GCAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,821,121 - 26,827,496 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,821,027 - 26,827,707 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,775,846 - 26,782,054 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01027,612,460 - 27,618,671 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1027,605,669 - 27,619,049 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11027,335,676 - 27,341,859 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01027,644,101 - 27,650,310 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01027,821,320 - 27,827,528 (-)NCBIUU_Cfam_GSD_1.0
Gcat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494510,296,601 - 10,303,032 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364923,304,031 - 3,313,475 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364923,307,015 - 3,313,441 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GCAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl510,027,044 - 10,038,433 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1510,027,133 - 10,038,494 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.257,426,530 - 7,437,953 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GCAT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11920,508,082 - 20,516,911 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1920,508,506 - 20,516,732 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045105,275,789 - 105,285,784 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gcat
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475210,089,827 - 10,103,515 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475210,095,979 - 10,103,442 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GCAT
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 copy number gain See cases [RCV000051683] Chr22:36068124..38002382 [GRCh38]
Chr22:36464172..38398389 [GRCh37]
Chr22:34794118..36728335 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1		 uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
NM_014291.4(GCAT):c.817G>T (p.Gly273Cys) single nucleotide variant Inborn genetic diseases [RCV003255066] Chr22:37815665 [GRCh38]
Chr22:38211672 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.197-44G>T single nucleotide variant Inborn genetic diseases [RCV003288222] Chr22:37809983 [GRCh38]
Chr22:38205990 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1 copy number loss See cases [RCV000512008] Chr22:36877226..38548989 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1 copy number loss Waardenburg syndrome type 4C [RCV000721944] Chr22:37805546..37983784 [GRCh38]
Chr22:38201553..38379791 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1 copy number loss not provided [RCV001007501] Chr22:38002218..38973070 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38212254-38222112)x3 copy number gain not provided [RCV000741961] Chr22:38212254..38222112 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_014291.4(GCAT):c.824C>T (p.Thr275Met) single nucleotide variant Inborn genetic diseases [RCV003244011] Chr22:37815672 [GRCh38]
Chr22:38211679 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.197-21A>T single nucleotide variant Inborn genetic diseases [RCV003268817] Chr22:37810006 [GRCh38]
Chr22:38206013 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.633C>G (p.Ile211Met) single nucleotide variant Inborn genetic diseases [RCV003240443] Chr22:37815182 [GRCh38]
Chr22:38211189 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38155164-38541997) copy number loss Waardenburg syndrome type 2E [RCV001290182] Chr22:38155164..38541997 [GRCh37]
Chr22:22q13.1		 pathogenic
NC_000022.10:g.(?_37154355)_(39148633_?)del deletion Emery-Dreifuss muscular dystrophy [RCV003122557]|Infantile neuroaxonal dystrophy [RCV003122556]|Myoclonic dystonia 26 [RCV003107333] Chr22:37154355..39148633 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic|uncertain significance
GRCh37/hg19 22q13.1(chr22:38116341-38369048) copy number loss not specified [RCV002052755] Chr22:38116341..38369048 [GRCh37]
Chr22:22q13.1		 likely pathogenic
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NM_014291.4(GCAT):c.197-66T>C single nucleotide variant Inborn genetic diseases [RCV003302550] Chr22:37809961 [GRCh38]
Chr22:38205968 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.8C>T (p.Pro3Leu) single nucleotide variant Inborn genetic diseases [RCV002682331] Chr22:37807975 [GRCh38]
Chr22:38203982 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.514C>T (p.His172Tyr) single nucleotide variant Inborn genetic diseases [RCV002816865] Chr22:37813547 [GRCh38]
Chr22:38209554 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.871C>G (p.Pro291Ala) single nucleotide variant Inborn genetic diseases [RCV002682491] Chr22:37815719 [GRCh38]
Chr22:38211726 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.704C>A (p.Ala235Asp) single nucleotide variant Inborn genetic diseases [RCV002668207] Chr22:37815253 [GRCh38]
Chr22:38211260 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.1082G>A (p.Arg361His) single nucleotide variant Inborn genetic diseases [RCV002640866] Chr22:37816295 [GRCh38]
Chr22:38212302 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.1160G>A (p.Arg387Gln) single nucleotide variant Inborn genetic diseases [RCV002713162] Chr22:37816618 [GRCh38]
Chr22:38212625 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.931G>T (p.Asp311Tyr) single nucleotide variant Inborn genetic diseases [RCV002985017] Chr22:37815779 [GRCh38]
Chr22:38211786 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.401G>T (p.Cys134Phe) single nucleotide variant Inborn genetic diseases [RCV002804414] Chr22:37812960 [GRCh38]
Chr22:38208967 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.538G>A (p.Asp180Asn) single nucleotide variant Inborn genetic diseases [RCV002921744] Chr22:37813571 [GRCh38]
Chr22:38209578 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.1070G>A (p.Arg357Gln) single nucleotide variant Inborn genetic diseases [RCV002718764] Chr22:37816283 [GRCh38]
Chr22:38212290 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.902C>G (p.Ala301Gly) single nucleotide variant Inborn genetic diseases [RCV003211802] Chr22:37815750 [GRCh38]
Chr22:38211757 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.907G>A (p.Val303Ile) single nucleotide variant Inborn genetic diseases [RCV003201576] Chr22:37815755 [GRCh38]
Chr22:38211762 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.1207C>T (p.Arg403Cys) single nucleotide variant Inborn genetic diseases [RCV003376228] Chr22:37816665 [GRCh38]
Chr22:38212672 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.524G>T (p.Arg175Leu) single nucleotide variant Inborn genetic diseases [RCV003373166] Chr22:37813557 [GRCh38]
Chr22:38209564 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.284T>C (p.Phe95Ser) single nucleotide variant Inborn genetic diseases [RCV003357754] Chr22:37810114 [GRCh38]
Chr22:38206121 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_38097373)_(39306081_?)del deletion not provided [RCV003122369] Chr22:38097373..39306081 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_014291.4(GCAT):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV002930475] Chr22:37807974 [GRCh38]
Chr22:38203981 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.857G>A (p.Arg286Gln) single nucleotide variant Inborn genetic diseases [RCV003004543] Chr22:37815705 [GRCh38]
Chr22:38211712 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.543G>A (p.Met181Ile) single nucleotide variant Inborn genetic diseases [RCV002678348] Chr22:37813576 [GRCh38]
Chr22:38209583 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_014291.4(GCAT):c.499C>T (p.Arg167Trp) single nucleotide variant Inborn genetic diseases [RCV003339335] Chr22:37813532 [GRCh38]
Chr22:38209539 [GRCh37]
Chr22:22q13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1943
Count of miRNA genes:821
Interacting mature miRNAs:972
Transcripts:ENST00000248924, ENST00000323205, ENST00000415371, ENST00000426858, ENST00000445195, ENST00000451984, ENST00000478203
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
G29683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,202,205 - 38,202,329UniSTSGRCh37
Build 362236,532,151 - 36,532,275RGDNCBI36
Celera2222,003,997 - 22,004,121RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,169,200 - 21,169,324UniSTS
H1F0__7560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,202,812 - 38,203,469UniSTSGRCh37
Build 362236,532,758 - 36,533,415RGDNCBI36
Celera2222,004,604 - 22,005,261RGD
HuRef2221,169,807 - 21,170,466UniSTS
G31469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,203,154 - 38,203,381UniSTSGRCh37
Build 362236,533,100 - 36,533,327RGDNCBI36
Celera2222,004,946 - 22,005,173RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,170,149 - 21,170,378UniSTS
STS-W90034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,203,048 - 38,203,175UniSTSGRCh37
Build 362236,532,994 - 36,533,121RGDNCBI36
Celera2222,004,840 - 22,004,967RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,170,043 - 21,170,170UniSTS
GeneMap99-GB4 RH Map22126.95UniSTS
RH17516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,202,052 - 38,202,279UniSTSGRCh37
Build 362236,531,998 - 36,532,225RGDNCBI36
Celera2222,003,844 - 22,004,071RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,169,047 - 21,169,274UniSTS
GeneMap99-GB4 RH Map22114.49UniSTS
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


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 921 931 1581 495 600 420 1816 1047 3075 251 1147 1095 87 205 1151 2 1
Low 1518 1999 145 129 1227 45 2541 1149 659 168 313 518 88 1 999 1637 4 1
Below cutoff 61 114 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001171690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF077740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP309052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000248924   ⟹   ENSP00000248924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,807,934 - 37,816,897 (+)Ensembl
RefSeq Acc Id: ENST00000323205   ⟹   ENSP00000371110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,807,905 - 37,817,176 (+)Ensembl
RefSeq Acc Id: ENST00000415371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,807,923 - 37,813,485 (+)Ensembl
RefSeq Acc Id: ENST00000426858   ⟹   ENSP00000402213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,807,938 - 37,815,208 (+)Ensembl
RefSeq Acc Id: ENST00000445195   ⟹   ENSP00000406719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,807,916 - 37,813,300 (+)Ensembl
RefSeq Acc Id: ENST00000451984   ⟹   ENSP00000388151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,808,014 - 37,813,609 (+)Ensembl
RefSeq Acc Id: ENST00000478203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,807,934 - 37,813,076 (+)Ensembl
RefSeq Acc Id: NM_001171690   ⟹   NP_001165161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,817,183 (+)NCBI
GRCh372238,203,906 - 38,213,183 (+)NCBI
Celera2222,005,704 - 22,014,976 (+)RGD
HuRef2221,170,909 - 21,180,178 (+)RGD
CHM1_12238,162,662 - 38,171,933 (+)NCBI
T2T-CHM13v2.02238,269,561 - 38,278,815 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014291   ⟹   NP_055106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
GRCh372238,203,906 - 38,213,183 (+)NCBI
Build 362236,533,901 - 36,542,850 (+)NCBI Archive
Celera2222,005,704 - 22,014,976 (+)RGD
HuRef2221,170,909 - 21,180,178 (+)RGD
CHM1_12238,162,662 - 38,171,656 (+)NCBI
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261409   ⟹   XP_005261466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
GRCh372238,203,906 - 38,213,183 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261410   ⟹   XP_005261467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
GRCh372238,203,906 - 38,213,183 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261411   ⟹   XP_005261468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
GRCh372238,203,906 - 38,213,183 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530023   ⟹   XP_011528325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028674   ⟹   XP_016884163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028675   ⟹   XP_016884164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028676   ⟹   XP_016884165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028677   ⟹   XP_016884166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,817,183 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452183   ⟹   XP_024307951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441216   ⟹   XP_047297172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,807,934 - 37,816,897 (+)NCBI
RefSeq Acc Id: XM_054325304   ⟹   XP_054181279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325305   ⟹   XP_054181280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325306   ⟹   XP_054181281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325307   ⟹   XP_054181282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325308   ⟹   XP_054181283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325309   ⟹   XP_054181284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325310   ⟹   XP_054181285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325311   ⟹   XP_054181286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,815 (+)NCBI
RefSeq Acc Id: XM_054325312   ⟹   XP_054181287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
RefSeq Acc Id: XM_054325313   ⟹   XP_054181288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,269,561 - 38,278,529 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001165161 (Get FASTA)   NCBI Sequence Viewer  
  NP_055106 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261466 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261467 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261468 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528325 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884163 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884164 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884165 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884166 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297172 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181279 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181280 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181288 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC27720 (Get FASTA)   NCBI Sequence Viewer  
  AAH14457 (Get FASTA)   NCBI Sequence Viewer  
  BAC85552 (Get FASTA)   NCBI Sequence Viewer  
  BAF82782 (Get FASTA)   NCBI Sequence Viewer  
  EAW60189 (Get FASTA)   NCBI Sequence Viewer  
  EAW60190 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000248924
  ENSP00000248924.6
  ENSP00000371110
  ENSP00000371110.3
  ENSP00000388151.1
  ENSP00000402213.1
  ENSP00000406719.1
GenBank Protein O75600 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001165161   ⟸   NM_001171690
- Peptide Label: isoform 1 precursor
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055106   ⟸   NM_014291
- Peptide Label: isoform 2 precursor
- UniProtKB: Q6ZWF1 (UniProtKB/Swiss-Prot),   E2QC23 (UniProtKB/Swiss-Prot),   Q96CA9 (UniProtKB/Swiss-Prot),   O75600 (UniProtKB/Swiss-Prot),   A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261466   ⟸   XM_005261409
- Peptide Label: isoform X5
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261467   ⟸   XM_005261410
- Peptide Label: isoform X6
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261468   ⟸   XM_005261411
- Peptide Label: isoform X7
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528325   ⟸   XM_011530023
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016884163   ⟸   XM_017028674
- Peptide Label: isoform X1
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884164   ⟸   XM_017028675
- Peptide Label: isoform X2
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884166   ⟸   XM_017028677
- Peptide Label: isoform X8
- UniProtKB: Q6ZWF1 (UniProtKB/Swiss-Prot),   E2QC23 (UniProtKB/Swiss-Prot),   Q96CA9 (UniProtKB/Swiss-Prot),   O75600 (UniProtKB/Swiss-Prot),   A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884165   ⟸   XM_017028676
- Peptide Label: isoform X3
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307951   ⟸   XM_024452183
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: ENSP00000402213   ⟸   ENST00000426858
RefSeq Acc Id: ENSP00000388151   ⟸   ENST00000451984
RefSeq Acc Id: ENSP00000371110   ⟸   ENST00000323205
RefSeq Acc Id: ENSP00000248924   ⟸   ENST00000248924
RefSeq Acc Id: ENSP00000406719   ⟸   ENST00000445195
RefSeq Acc Id: XP_047297172   ⟸   XM_047441216
- Peptide Label: isoform X4
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181286   ⟸   XM_054325311
- Peptide Label: isoform X8
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181279   ⟸   XM_054325304
- Peptide Label: isoform X1
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181280   ⟸   XM_054325305
- Peptide Label: isoform X2
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181283   ⟸   XM_054325308
- Peptide Label: isoform X5
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181284   ⟸   XM_054325309
- Peptide Label: isoform X6
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181281   ⟸   XM_054325306
- Peptide Label: isoform X3
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181282   ⟸   XM_054325307
- Peptide Label: isoform X4
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181285   ⟸   XM_054325310
- Peptide Label: isoform X7
- UniProtKB: A8K228 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181287   ⟸   XM_054325312
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054181288   ⟸   XM_054325313
- Peptide Label: isoform X10
Protein Domains
Aminotransferase class I/classII

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75600-F1-model_v2 AlphaFold O75600 1-419 view protein structure

Promoters
RGD ID:6800019
Promoter ID:HG_KWN:42738
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001171690,   NM_014291,   OTTHUMT00000319453,   OTTHUMT00000319508,   OTTHUMT00000319509,   OTTHUMT00000319510,   OTTHUMT00000319511,   OTTHUMT00000319512
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,531,161 - 36,534,077 (+)MPROMDB
RGD ID:6851082
Promoter ID:EP73338
Type:initiation region
Name:HS_GCAT
Description:Glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme Aligase) , nuclear gene encoding mitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,533,869 - 36,533,929EPD
RGD ID:13604010
Promoter ID:EPDNEW_H28189
Type:initiation region
Name:GCAT_1
Description:glycine C-acetyltransferase
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
GRCh382237,807,938 - 37,807,998EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4188 AgrOrtholog
COSMIC GCAT COSMIC
Ensembl Genes ENSG00000100116 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000248924 ENTREZGENE
  ENST00000248924.11 UniProtKB/Swiss-Prot
  ENST00000323205 ENTREZGENE
  ENST00000323205.10 UniProtKB/Swiss-Prot
  ENST00000426858.1 UniProtKB/TrEMBL
  ENST00000445195.5 UniProtKB/TrEMBL
  ENST00000451984.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100116 GTEx
HGNC ID HGNC:4188 ENTREZGENE
Human Proteome Map GCAT Human Proteome Map
InterPro 2am3keto_CoA_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_II_pyridoxalP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23464 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23464 ENTREZGENE
OMIM 607422 OMIM
PANTHER 2-AMINO-3-KETOBUTYRATE COENZYME A LIGASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLASS II AMINOTRANSFERASE/8-AMINO-7-OXONONANOATE SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28603 PharmGKB
PROSITE AA_TRANSFER_CLASS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K228 ENTREZGENE, UniProtKB/TrEMBL
  C9IZC9_HUMAN UniProtKB/TrEMBL
  E2QC23 ENTREZGENE
  F2Z340_HUMAN UniProtKB/TrEMBL
  H7BZ75_HUMAN UniProtKB/TrEMBL
  KBL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6ZWF1 ENTREZGENE
  Q96CA9 ENTREZGENE
UniProt Secondary E2QC23 UniProtKB/Swiss-Prot
  Q6ZWF1 UniProtKB/Swiss-Prot
  Q96CA9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GCAT  glycine C-acetyltransferase  GCAT  glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)  Symbol and/or name change 5135510 APPROVED