KYAT1 (kynurenine aminotransferase 1) - Rat Genome Database

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Gene: KYAT1 (kynurenine aminotransferase 1) Homo sapiens
Analyze
Symbol: KYAT1
Name: kynurenine aminotransferase 1
RGD ID: 1315794
HGNC Page HGNC:1564
Description: Enables cysteine-S-conjugate beta-lyase activity; kynurenine-oxoglutarate transaminase activity; and protein homodimerization activity. Involved in kynurenine metabolic process. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-lysase, kidney; CCBL1; cysteine conjugate beta lyase 1; cysteine conjugate-beta lyase; cysteine conjugate-beta lyase, cytoplasmic; cysteine-S-conjugate beta-lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase); FLJ95217; glutamine transaminase K; glutamine--phenylpyruvate transaminase; glutamine-phenylpyruvate aminotransferase; GTK; KAT1; KATI; kyneurenine aminotransferase; kynurenine aminotransferase I; kynurenine--oxoglutarate transaminase 1; kynurenine--oxoglutarate transaminase I; MGC29624
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh389128,832,942 - 128,882,523 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9128,832,942 - 128,882,494 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,595,221 - 131,644,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,635,213 - 130,684,175 (-)NCBINCBI36hg18NCBI36
Build 349128,674,776 - 128,723,886NCBI
Celera9102,246,153 - 102,296,248 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9101,204,381 - 101,252,461 (-)NCBIHuRef
CHM1_19131,746,397 - 131,795,334 (-)NCBICHM1_1
T2T-CHM13v2.09141,037,719 - 141,087,270 (-)NCBI
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-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-methylthio-2-oxobutanoic acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
carbaryl  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dimethoate  (ISO)
ethanol  (ISO)
felbamate  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
gabapentin  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
Hexachloro-1,3-butadiene  (ISO)
L-cystathionine  (EXP)
L-cysteine  (EXP,ISO)
L-cystine  (EXP)
L-methionine  (EXP)
lamotrigine  (ISO)
lanthionine  (EXP)
leflunomide  (ISO)
mercury dichloride  (EXP,ISO)
methomyl  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
paracetamol  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quinolin-8-ol  (EXP)
senecionine  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
tiagabine  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vigabatrin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,IEA,ISO,TAS)
mitochondrion  (IBA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Intraarticular interferon-beta gene therapy ameliorates adjuvant arthritis in rats. Adriaansen J, etal., Hum Gene Ther. 2006 Oct;17(10):985-96.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Structure, expression, and function of kynurenine aminotransferases in human and rodent brains. Han Q, etal., Cell Mol Life Sci. 2010 Feb;67(3):353-68. doi: 10.1007/s00018-009-0166-4. Epub 2009 Oct 15.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2139845   PMID:7814371   PMID:7883047   PMID:8294935   PMID:8736988   PMID:8889548   PMID:8968194   PMID:10369878   PMID:12477932   PMID:14702039   PMID:15016471   PMID:15164053  
PMID:15364907   PMID:15489334   PMID:16344560   PMID:16376499   PMID:16463021   PMID:16828464   PMID:17207965   PMID:18029348   PMID:18342615   PMID:19338303   PMID:21832049   PMID:21873635  
PMID:22093698   PMID:22658674   PMID:22939629   PMID:24816252   PMID:25416956   PMID:26344197   PMID:28514442   PMID:28706436   PMID:29892012   PMID:31231915   PMID:31391242   PMID:33961781  


Genomics

Comparative Map Data
KYAT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,832,942 - 128,882,523 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9128,832,942 - 128,882,494 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,595,221 - 131,644,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,635,213 - 130,684,175 (-)NCBINCBI36hg18NCBI36
Build 349128,674,776 - 128,723,886NCBI
Celera9102,246,153 - 102,296,248 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9101,204,381 - 101,252,461 (-)NCBIHuRef
CHM1_19131,746,397 - 131,795,334 (-)NCBICHM1_1
T2T-CHM13v2.09141,037,719 - 141,087,270 (-)NCBI
Kyat1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,075,136 - 30,096,307 (-)NCBIGRCm39mm39
GRCm39 Ensembl230,075,136 - 30,095,859 (-)Ensembl
GRCm38230,185,124 - 30,206,295 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,185,124 - 30,205,847 (-)EnsemblGRCm38mm10GRCm38
MGSCv37230,040,651 - 30,061,219 (-)NCBIGRCm37mm9NCBIm37
MGSCv36230,007,140 - 30,027,708 (-)NCBImm8
Celera229,889,003 - 29,909,565 (-)NCBICelera
Cytogenetic Map2BNCBI
Kyat1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2313,459,598 - 13,493,308 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl313,459,591 - 13,493,355 (-)Ensembl
Rnor_6.038,752,289 - 8,785,617 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl38,752,625 - 8,766,433 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0314,104,785 - 14,138,554 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.439,195,737 - 9,209,545 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.139,196,036 - 9,209,845 (-)NCBI
Celera38,233,964 - 8,247,766 (-)NCBICelera
Cytogenetic Map3p12NCBI
Kyat1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555701,211,160 - 1,254,303 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555701,211,950 - 1,260,561 (-)NCBIChiLan1.0ChiLan1.0
KYAT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19128,623,475 - 128,670,061 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9128,623,946 - 128,637,844 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0999,956,240 - 100,004,366 (-)NCBIMhudiblu_PPA_v0panPan3
KYAT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1954,760,212 - 54,796,996 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl954,760,276 - 54,796,848 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha953,955,737 - 53,992,502 (+)NCBI
ROS_Cfam_1.0955,681,245 - 55,718,029 (+)NCBI
ROS_Cfam_1.0 Ensembl955,681,260 - 55,718,026 (+)Ensembl
UMICH_Zoey_3.1954,442,358 - 54,478,686 (+)NCBI
UNSW_CanFamBas_1.0954,754,709 - 54,791,457 (+)NCBI
UU_Cfam_GSD_1.0954,848,260 - 54,884,843 (+)NCBI
Kyat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947196,530,527 - 196,575,811 (-)NCBI
SpeTri2.0NW_00493648716,299,054 - 16,344,587 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KYAT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1269,172,628 - 269,209,478 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11269,172,628 - 269,209,553 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21303,188,686 - 303,225,635 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KYAT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1129,271,016 - 9,311,984 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666096165,054 - 207,022 (-)NCBIVero_WHO_p1.0

Position Markers
RH93380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,595,422 - 131,595,623UniSTSGRCh37
Build 369130,635,243 - 130,635,444RGDNCBI36
Celera9102,246,183 - 102,246,384RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,204,411 - 101,204,612UniSTS
GeneMap99-GB4 RH Map9392.76UniSTS
WI-22794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,622,630 - 131,622,790UniSTSGRCh37
Build 369130,662,451 - 130,662,611RGDNCBI36
Celera9102,273,384 - 102,273,544RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,231,411 - 101,231,571UniSTS
GeneMap99-GB4 RH Map9394.37UniSTS
Whitehead-RH Map9473.2UniSTS
L18429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,601,198 - 131,601,310UniSTSGRCh37
Build 369130,641,019 - 130,641,131RGDNCBI36
Celera9102,251,962 - 102,252,074RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,210,187 - 101,210,300UniSTS
MARC_8233-8234:996688438:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,597,615 - 131,598,120UniSTSGRCh37
Build 369130,637,436 - 130,637,941RGDNCBI36
Celera9102,248,376 - 102,248,881RGD
HuRef9101,206,604 - 101,207,109UniSTS
REN36776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,701,033 - 131,701,258UniSTSGRCh37
Build 369130,740,854 - 130,741,079RGDNCBI36
Celera9102,352,892 - 102,353,117UniSTS
Celera9102,288,939 - 102,289,164RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,308,752 - 101,308,977UniSTS
SHGC-31452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,622,663 - 131,622,789UniSTSGRCh37
Build 369130,662,484 - 130,662,610RGDNCBI36
Celera9102,273,417 - 102,273,543RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,231,444 - 101,231,570UniSTS
GeneMap99-G3 RH Map94590.0UniSTS
RH46270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,607,191 - 131,607,310UniSTSGRCh37
Build 369130,647,012 - 130,647,131RGDNCBI36
Celera9102,257,953 - 102,258,072RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,216,180 - 101,216,299UniSTS
GeneMap99-GB4 RH Map9394.37UniSTS
D17S610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map10q21.1UniSTS
RH71294  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.11UniSTS
GeneMap99-GB4 RH Map9395.69UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2726
Count of miRNA genes:812
Interacting mature miRNAs:957
Transcripts:ENST00000302586, ENST00000320665, ENST00000416084, ENST00000427720, ENST00000436267, ENST00000451800, ENST00000462722, ENST00000466418, ENST00000474824, ENST00000483599
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 66 489 571 79 419 81 881 48 1632 94 576 420 2 6 628
Low 2373 2471 1155 545 1513 384 3475 2136 2102 325 884 1191 172 1 1198 2160 6 2
Below cutoff 31 19 12 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001122671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK094505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL441992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU123740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW073815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI755163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM692880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU622726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA381449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC413592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL733697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302586   ⟹   ENSP00000302227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,832,942 - 128,881,950 (-)Ensembl
RefSeq Acc Id: ENST00000320665   ⟹   ENSP00000317342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,833,119 - 128,881,929 (-)Ensembl
RefSeq Acc Id: ENST00000416084   ⟹   ENSP00000412402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,837,700 - 128,846,857 (-)Ensembl
RefSeq Acc Id: ENST00000427720   ⟹   ENSP00000392354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,838,275 - 128,845,408 (-)Ensembl
RefSeq Acc Id: ENST00000436267   ⟹   ENSP00000399415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,833,296 - 128,881,931 (-)Ensembl
RefSeq Acc Id: ENST00000451800   ⟹   ENSP00000390377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,836,009 - 128,882,494 (-)Ensembl
RefSeq Acc Id: ENST00000462722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,832,942 - 128,882,036 (-)Ensembl
RefSeq Acc Id: ENST00000466418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,835,178 - 128,835,511 (-)Ensembl
RefSeq Acc Id: ENST00000474824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,837,751 - 128,881,945 (-)Ensembl
RefSeq Acc Id: ENST00000483599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,833,123 - 128,860,532 (-)Ensembl
RefSeq Acc Id: ENST00000651925   ⟹   ENSP00000498386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9128,819,663 - 128,881,931 (-)Ensembl
RefSeq Acc Id: NM_001122671   ⟹   NP_001116143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
GRCh379131,595,392 - 131,644,354 (-)NCBI
HuRef9101,204,210 - 101,252,461 (-)NCBI
CHM1_19131,746,397 - 131,795,334 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001122672   ⟹   NP_001116144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
GRCh379131,595,392 - 131,644,354 (-)NCBI
HuRef9101,204,210 - 101,252,461 (-)NCBI
CHM1_19131,746,397 - 131,795,334 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287390   ⟹   NP_001274319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
HuRef9101,204,210 - 101,252,461 (-)NCBI
CHM1_19131,746,226 - 131,795,334 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352988   ⟹   NP_001339917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,882,523 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,087,270 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352989   ⟹   NP_001339918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,882,523 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,087,270 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352990   ⟹   NP_001339919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352991   ⟹   NP_001339920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352992   ⟹   NP_001339921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352993   ⟹   NP_001339922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,845,750 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,050,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352994   ⟹   NP_001339923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352995   ⟹   NP_001339924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352996   ⟹   NP_001339925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352997   ⟹   NP_001339926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352998   ⟹   NP_001339927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352999   ⟹   NP_001339928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004059   ⟹   NP_004050
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
GRCh379131,595,392 - 131,644,354 (-)ENTREZGENE
GRCh379131,595,392 - 131,644,354 (-)NCBI
Build 369130,635,213 - 130,684,175 (-)NCBI Archive
HuRef9101,204,210 - 101,252,461 (-)NCBI
CHM1_19131,746,397 - 131,795,334 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109829
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
HuRef9101,204,210 - 101,252,461 (-)NCBI
CHM1_19131,746,226 - 131,795,334 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148224
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
T2T-CHM13v2.09141,037,719 - 141,086,697 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148225
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,833,113 - 128,860,532 (-)NCBI
T2T-CHM13v2.09141,037,890 - 141,065,309 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519168   ⟹   XP_011517470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,845,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519170   ⟹   XP_011517472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,860,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015262   ⟹   XP_016870751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,860,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015267   ⟹   XP_016870756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424047   ⟹   XP_047280003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,848,105 (-)NCBI
RefSeq Acc Id: XM_047424048   ⟹   XP_047280004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,833,740 - 128,848,107 (-)NCBI
RefSeq Acc Id: XM_047424049   ⟹   XP_047280005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,848,103 (-)NCBI
RefSeq Acc Id: XM_047424050   ⟹   XP_047280006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,833,740 - 128,882,523 (-)NCBI
RefSeq Acc Id: XM_047424051   ⟹   XP_047280007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,860,149 (-)NCBI
RefSeq Acc Id: XM_047424052   ⟹   XP_047280008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,862,876 (-)NCBI
RefSeq Acc Id: XM_047424053   ⟹   XP_047280009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,835,779 - 128,848,109 (-)NCBI
RefSeq Acc Id: XM_047424054   ⟹   XP_047280010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
RefSeq Acc Id: XM_047424055   ⟹   XP_047280011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,832,942 - 128,881,950 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001116143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116144 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274319 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339917 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339918 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339919 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339920 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339921 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339922 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339924 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339926 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339927 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339928 (Get FASTA)   NCBI Sequence Viewer  
  NP_004050 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517470 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517472 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870751 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870756 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280003 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280004 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280005 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280006 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280007 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280008 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280009 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280010 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280011 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH21262 (Get FASTA)   NCBI Sequence Viewer  
  AAH33685 (Get FASTA)   NCBI Sequence Viewer  
  BAF83867 (Get FASTA)   NCBI Sequence Viewer  
  BAG37043 (Get FASTA)   NCBI Sequence Viewer  
  BAG52878 (Get FASTA)   NCBI Sequence Viewer  
  BAH12701 (Get FASTA)   NCBI Sequence Viewer  
  CAA57702 (Get FASTA)   NCBI Sequence Viewer  
  CAB44342 (Get FASTA)   NCBI Sequence Viewer  
  CAB44343 (Get FASTA)   NCBI Sequence Viewer  
  EAW87840 (Get FASTA)   NCBI Sequence Viewer  
  EAW87841 (Get FASTA)   NCBI Sequence Viewer  
  Q16773 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001116143   ⟸   NM_001122671
- Peptide Label: isoform a
- UniProtKB: Q16773 (UniProtKB/Swiss-Prot),   A8K563 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116144   ⟸   NM_001122672
- Peptide Label: isoform b
- UniProtKB: Q16773 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004050   ⟸   NM_004059
- Peptide Label: isoform a
- UniProtKB: Q16773 (UniProtKB/Swiss-Prot),   A8K563 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274319   ⟸   NM_001287390
- Peptide Label: isoform c
- UniProtKB: B7Z4W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517472   ⟸   XM_011519170
- Peptide Label: isoform X6
- UniProtKB: Q16773 (UniProtKB/Swiss-Prot),   A8K563 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517470   ⟸   XM_011519168
- Peptide Label: isoform X6
- UniProtKB: Q16773 (UniProtKB/Swiss-Prot),   A8K563 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870756   ⟸   XM_017015267
- Peptide Label: isoform X6
- UniProtKB: Q16773 (UniProtKB/Swiss-Prot),   A8K563 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870751   ⟸   XM_017015262
- Peptide Label: isoform X1
- UniProtKB: B7Z4W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339918   ⟸   NM_001352989
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001339917   ⟸   NM_001352988
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001339920   ⟸   NM_001352991
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001339926   ⟸   NM_001352997
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001339924   ⟸   NM_001352995
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001339923   ⟸   NM_001352994
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001339928   ⟸   NM_001352999
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001339919   ⟸   NM_001352990
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001339921   ⟸   NM_001352992
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001339927   ⟸   NM_001352998
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001339925   ⟸   NM_001352996
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001339922   ⟸   NM_001352993
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: ENSP00000390377   ⟸   ENST00000451800
RefSeq Acc Id: ENSP00000392354   ⟸   ENST00000427720
RefSeq Acc Id: ENSP00000317342   ⟸   ENST00000320665
RefSeq Acc Id: ENSP00000498386   ⟸   ENST00000651925
RefSeq Acc Id: ENSP00000412402   ⟸   ENST00000416084
RefSeq Acc Id: ENSP00000302227   ⟸   ENST00000302586
RefSeq Acc Id: ENSP00000399415   ⟸   ENST00000436267
RefSeq Acc Id: XP_047280011   ⟸   XM_047424055
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047280010   ⟸   XM_047424054
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047280008   ⟸   XM_047424052
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047280007   ⟸   XM_047424051
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047280003   ⟸   XM_047424047
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280005   ⟸   XM_047424049
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047280006   ⟸   XM_047424050
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047280004   ⟸   XM_047424048
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047280009   ⟸   XM_047424053
- Peptide Label: isoform X7
Protein Domains
Aminotran_1_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16773-F1-model_v2 AlphaFold Q16773 1-422 view protein structure

Promoters
RGD ID:7216327
Promoter ID:EPDNEW_H13909
Type:initiation region
Name:CCBL1_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13910  EPDNEW_H13912  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,881,950 - 128,882,010EPDNEW
RGD ID:7216329
Promoter ID:EPDNEW_H13910
Type:initiation region
Name:CCBL1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13909  EPDNEW_H13912  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,063 - 128,882,123EPDNEW
RGD ID:7216333
Promoter ID:EPDNEW_H13912
Type:initiation region
Name:CCBL1_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13909  EPDNEW_H13910  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,525 - 128,882,585EPDNEW
RGD ID:6807360
Promoter ID:HG_KWN:65186
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054528
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,637,341 - 130,637,841 (-)MPROMDB
RGD ID:6807361
Promoter ID:HG_KWN:65187
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000106522
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,647,721 - 130,648,221 (-)MPROMDB
RGD ID:6807277
Promoter ID:HG_KWN:65191
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372610,   NM_001122671,   NM_001122672,   NM_004059,   OTTHUMT00000054525,   OTTHUMT00000054526,   UC004BWI.1,   UC004BWK.1,   UC010MYO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,683,266 - 130,685,487 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3 copy number gain See cases [RCV000052257] Chr9:128808545..129002107 [GRCh38]
Chr9:131570824..131764386 [GRCh37]
Chr9:130610645..130804207 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 copy number gain See cases [RCV000053777] Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11		 pathogenic
NM_001122671.1(CCBL1):c.1044G>A (p.Lys348=) single nucleotide variant Malignant melanoma [RCV000068554] Chr9:128835401 [GRCh38]
Chr9:131597680 [GRCh37]
Chr9:130637501 [NCBI36]
Chr9:9q34.11		 not provided
NM_001122671.1(CCBL1):c.1043A>G (p.Lys348Arg) single nucleotide variant Malignant melanoma [RCV000068555] Chr9:128835402 [GRCh38]
Chr9:131597681 [GRCh37]
Chr9:130637502 [NCBI36]
Chr9:9q34.11		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 copy number loss See cases [RCV000138126] Chr9:128610170..129368351 [GRCh38]
Chr9:131372449..132130630 [GRCh37]
Chr9:130412270..131170451 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 copy number gain See cases [RCV000137775] Chr9:128839676..130912873 [GRCh38]
Chr9:131601955..133788260 [GRCh37]
Chr9:130641776..132778081 [NCBI36]
Chr9:9q34.11-34.12		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1 copy number loss See cases [RCV000138929] Chr9:128236347..128912067 [GRCh38]
Chr9:130998626..131674346 [GRCh37]
Chr9:130038447..130714167 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:131550680-131775355)x3 copy number gain See cases [RCV000240044] Chr9:131550680..131775355 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:131622711-131689418)x1 copy number loss See cases [RCV000240307] Chr9:131622711..131689418 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3 copy number gain not provided [RCV001270669] Chr9:131282528..131720659 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 copy number loss not provided [RCV000748699] Chr9:131413885..133866894 [GRCh37]
Chr9:9q34.11-34.12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004059.5(KYAT1):c.-6-2041C>T single nucleotide variant not provided [RCV000963658] Chr9:128847452 [GRCh38]
Chr9:131609731 [GRCh37]
Chr9:9q34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1 copy number loss not provided [RCV001006274] Chr9:130957344..132310210 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3 copy number gain not provided [RCV001006275] Chr9:131094304..131863858 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1564 AgrOrtholog
COSMIC KYAT1 COSMIC
Ensembl Genes ENSG00000171097 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000286112 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSP00000302227 ENTREZGENE
  ENSP00000302227.3 UniProtKB/Swiss-Prot
  ENSP00000317342 ENTREZGENE
  ENSP00000317342.6 UniProtKB/Swiss-Prot
  ENSP00000390377.1 UniProtKB/TrEMBL
  ENSP00000392354.1 UniProtKB/TrEMBL
  ENSP00000399415 ENTREZGENE
  ENSP00000399415.2 UniProtKB/TrEMBL
  ENSP00000412402.1 UniProtKB/TrEMBL
  ENSP00000498386 ENTREZGENE
  ENSP00000498386.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000302586 ENTREZGENE
  ENST00000302586.8 UniProtKB/Swiss-Prot
  ENST00000320665 ENTREZGENE
  ENST00000320665.10 UniProtKB/Swiss-Prot
  ENST00000416084.5 UniProtKB/TrEMBL
  ENST00000427720.1 UniProtKB/TrEMBL
  ENST00000436267 ENTREZGENE
  ENST00000436267.7 UniProtKB/TrEMBL
  ENST00000451800.5 UniProtKB/TrEMBL
  ENST00000462722 ENTREZGENE
  ENST00000483599 ENTREZGENE
  ENST00000651925 ENTREZGENE
  ENST00000651925.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171097 GTEx
  ENSG00000286112 GTEx
HGNC ID HGNC:1564 ENTREZGENE
Human Proteome Map KYAT1 Human Proteome Map
InterPro Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KAT_I 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:883 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 883 ENTREZGENE
OMIM 600547 OMIM
PANTHER PTHR43807:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26138 PharmGKB
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C066_HUMAN UniProtKB/TrEMBL
  A8K563 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4W5 ENTREZGENE, UniProtKB/TrEMBL
  KAT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T276_HUMAN UniProtKB/TrEMBL
  Q5T277_HUMAN UniProtKB/TrEMBL
  Q5T278_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5T275 UniProtKB/Swiss-Prot
  Q8N191 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 KYAT1  kynurenine aminotransferase 1  CCBL1  cysteine conjugate-beta lyase, cytoplasmic  Symbol and/or name change 5135510 APPROVED
2011-08-17 CCBL1  cysteine conjugate-beta lyase, cytoplasmic  CCBL1  cysteine conjugate-beta lyase, cytoplasmic  Symbol and/or name change 5135510 APPROVED