PASK (PAS domain containing serine/threonine kinase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PASK (PAS domain containing serine/threonine kinase) Homo sapiens
Analyze
Symbol: PASK
Name: PAS domain containing serine/threonine kinase
RGD ID: 1314594
HGNC Page HGNC
Description: Enables phosphatidylinositol binding activity and protein serine/threonine kinase activity. Involved in negative regulation of glycogen biosynthetic process and protein autophosphorylation. Located in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp434O051; DKFZp686P2031; hPASK; KIAA0135; PAS domain-containing serine/threonine-protein kinase; PAS-kinase; PAS-serine/threonine kinase; PASKIN; per-arnt-sim (PAS) domain kinase; STK37
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,106,099 - 241,150,264 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,106,099 - 241,150,264 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,045,514 - 242,089,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,694,188 - 241,737,551 (-)NCBINCBI36hg18NCBI36
Build 342241,765,504 - 241,808,868NCBI
Celera2235,715,217 - 235,758,602 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,801,521 - 233,845,836 (-)NCBIHuRef
CHM1_12242,051,569 - 242,095,450 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IBA,IDA)
nucleus  (IBA,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8590280   PMID:8619474   PMID:9110174   PMID:9761740   PMID:11459942   PMID:11688972   PMID:12168954   PMID:12377121   PMID:12477932   PMID:14702039   PMID:15148392   PMID:15302935  
PMID:15489334   PMID:16275910   PMID:16344560   PMID:17353931   PMID:17595531   PMID:18029348   PMID:20943661   PMID:21181396   PMID:21327866   PMID:21418524   PMID:21873635   PMID:22065581  
PMID:22219681   PMID:22939624   PMID:23456168   PMID:23602568   PMID:23721480   PMID:23853095   PMID:24778252   PMID:25659891   PMID:26186194   PMID:26485645   PMID:26638075   PMID:26673895  
PMID:26972000   PMID:28380382   PMID:28514442   PMID:28675297   PMID:29229926   PMID:29395067   PMID:30381292   PMID:31072927   PMID:31495888   PMID:31529049   PMID:31753913   PMID:33845483  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34709727  


Genomics

Comparative Map Data
PASK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,106,099 - 241,150,264 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,106,099 - 241,150,264 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,045,514 - 242,089,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,694,188 - 241,737,551 (-)NCBINCBI36hg18NCBI36
Build 342241,765,504 - 241,808,868NCBI
Celera2235,715,217 - 235,758,602 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,801,521 - 233,845,836 (-)NCBIHuRef
CHM1_12242,051,569 - 242,095,450 (-)NCBICHM1_1
Pask
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,237,159 - 93,271,244 (-)NCBIGRCm39mm39
GRCm39 Ensembl193,236,492 - 93,271,204 (-)Ensembl
GRCm38193,309,437 - 93,343,522 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,308,770 - 93,343,482 (-)EnsemblGRCm38mm10GRCm38
MGSCv37195,206,014 - 95,239,365 (-)NCBIGRCm37mm9NCBIm37
MGSCv36195,139,843 - 95,167,980 (-)NCBImm8
Celera196,254,103 - 96,287,403 (-)NCBICelera
Cytogenetic Map1DNCBI
Pask
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2993,844,275 - 93,886,036 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl993,844,278 - 93,885,111 (-)Ensembl
Rnor_6.09100,450,595 - 100,479,719 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9100,450,586 - 100,479,868 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09100,106,950 - 100,136,074 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,582,177 - 92,623,004 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1992,786,946 - 92,827,773 (-)NCBI
Celera991,379,229 - 91,420,042 (-)NCBICelera
Cytogenetic Map9q36NCBI
Pask
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542555,030 - 578,227 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955542539,806 - 578,496 (+)NCBIChiLan1.0ChiLan1.0
PASK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B247,162,011 - 247,215,451 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B247,162,011 - 247,214,803 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B128,364,745 - 128,418,837 (-)NCBIMhudiblu_PPA_v0panPan3
PASK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12551,145,094 - 51,181,040 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,144,912 - 51,177,818 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,358,398 - 51,393,714 (-)NCBI
ROS_Cfam_1.02551,340,211 - 51,375,472 (-)NCBI
ROS_Cfam_1.0 Ensembl2551,338,043 - 51,375,448 (-)Ensembl
UMICH_Zoey_3.12551,187,899 - 51,223,198 (-)NCBI
UNSW_CanFamBas_1.02550,927,406 - 50,962,618 (-)NCBI
UU_Cfam_GSD_1.02551,203,734 - 51,238,468 (-)NCBI
Pask
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,515,388 - 192,555,345 (-)NCBI
SpeTri2.0NW_004936745664,062 - 704,027 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PASK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,881,221 - 139,917,089 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,887,439 - 139,917,887 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215155,006,110 - 155,031,416 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PASK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,156,577 - 127,206,745 (-)NCBIChlSab1.1chlSab2
ChlSab1.110127,156,577 - 127,206,745 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl10127,156,558 - 127,199,845 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604072,175,714 - 72,226,448 (+)NCBIVero_WHO_p1.0
Pask
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248475,215,626 - 5,246,540 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-30587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,045,515 - 242,045,664UniSTSGRCh37
Build 362241,694,188 - 241,694,337RGDNCBI36
Celera2235,715,217 - 235,715,366RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,801,522 - 233,801,671UniSTS
TNG Radiation Hybrid Map2135686.0UniSTS
Stanford-G3 RH Map29346.0UniSTS
GeneMap99-GB4 RH Map2741.81UniSTS
Whitehead-RH Map21077.5UniSTS
NCBI RH Map21905.3UniSTS
GeneMap99-G3 RH Map210185.0UniSTS
RH25358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,045,824 - 242,045,969UniSTSGRCh37
Build 362241,694,497 - 241,694,642RGDNCBI36
Celera2235,715,526 - 235,715,671RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,801,831 - 233,801,976UniSTS
G63684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,080,212 - 242,080,432UniSTSGRCh37
Build 362241,728,885 - 241,729,105RGDNCBI36
Celera2235,749,936 - 235,750,156RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,836,658 - 233,836,878UniSTS
TNG Radiation Hybrid Map2135706.0UniSTS
G42011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,073,536 - 242,073,668UniSTSGRCh37
Build 362241,722,209 - 241,722,341RGDNCBI36
Celera2235,743,260 - 235,743,392RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,829,982 - 233,830,114UniSTS
PASK__5828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,045,464 - 242,046,140UniSTSGRCh37
Build 362241,694,137 - 241,694,813RGDNCBI36
Celera2235,715,166 - 235,715,842RGD
HuRef2233,801,471 - 233,802,147UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3345
Count of miRNA genes:1134
Interacting mature miRNAs:1385
Transcripts:ENST00000234040, ENST00000358649, ENST00000403638, ENST00000405260, ENST00000415234, ENST00000433589, ENST00000437780, ENST00000452907, ENST00000459710, ENST00000472072, ENST00000475666, ENST00000485940, ENST00000489256, ENST00000493544, ENST00000539818, ENST00000544142
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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 146 51 577 20 847 19 288 28 751 36 664 690 5 2 55 1
Low 2284 2615 1122 585 1061 427 3631 1498 2873 380 784 918 166 1202 2299 3 1
Below cutoff 3 318 23 17 42 17 436 667 85 3 2 434

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF387103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA104684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000234040   ⟹   ENSP00000234040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,106,099 - 241,149,472 (-)Ensembl
RefSeq Acc Id: ENST00000358649   ⟹   ENSP00000351475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,106,297 - 241,149,435 (-)Ensembl
RefSeq Acc Id: ENST00000403638   ⟹   ENSP00000384438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,113,307 - 241,149,463 (-)Ensembl
RefSeq Acc Id: ENST00000405260   ⟹   ENSP00000384016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,106,295 - 241,150,264 (-)Ensembl
RefSeq Acc Id: ENST00000415234   ⟹   ENSP00000400734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,137,071 - 241,149,481 (-)Ensembl
RefSeq Acc Id: ENST00000433589   ⟹   ENSP00000395672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,137,007 - 241,139,595 (-)Ensembl
RefSeq Acc Id: ENST00000437780   ⟹   ENSP00000408506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,135,876 - 241,149,483 (-)Ensembl
RefSeq Acc Id: ENST00000452907   ⟹   ENSP00000397922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,140,574 - 241,149,449 (-)Ensembl
RefSeq Acc Id: ENST00000459710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,126,986 - 241,127,759 (-)Ensembl
RefSeq Acc Id: ENST00000472072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,106,295 - 241,109,780 (-)Ensembl
RefSeq Acc Id: ENST00000475666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,107,465 - 241,112,425 (-)Ensembl
RefSeq Acc Id: ENST00000485940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,138,752 - 241,140,867 (-)Ensembl
RefSeq Acc Id: ENST00000489256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,107,460 - 241,112,786 (-)Ensembl
RefSeq Acc Id: ENST00000493544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,113,635 - 241,134,769 (-)Ensembl
RefSeq Acc Id: ENST00000544142   ⟹   ENSP00000441374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,106,100 - 241,149,979 (-)Ensembl
RefSeq Acc Id: ENST00000629419   ⟹   ENSP00000486149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,138,775 - 241,143,032 (-)Ensembl
RefSeq Acc Id: NM_001252119   ⟹   NP_001239048
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,472 (-)NCBI
GRCh372242,045,514 - 242,089,394 (-)NCBI
HuRef2233,801,521 - 233,845,836 (-)NCBI
CHM1_12242,051,569 - 242,094,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001252120   ⟹   NP_001239049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,150,222 (-)NCBI
GRCh372242,045,514 - 242,089,394 (-)NCBI
HuRef2233,801,521 - 233,845,836 (-)NCBI
CHM1_12242,051,569 - 242,095,450 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001252122   ⟹   NP_001239051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,472 (-)NCBI
GRCh372242,045,514 - 242,089,394 (-)NCBI
HuRef2233,801,521 - 233,845,836 (-)NCBI
CHM1_12242,051,569 - 242,094,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001252124   ⟹   NP_001239053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,113,307 - 241,149,472 (-)NCBI
GRCh372242,045,514 - 242,089,394 (-)NCBI
HuRef2233,801,521 - 233,845,836 (-)NCBI
CHM1_12242,059,105 - 242,094,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015148   ⟹   NP_055963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,472 (-)NCBI
GRCh372242,045,514 - 242,089,394 (-)NCBI
Build 362241,694,188 - 241,737,551 (-)NCBI Archive
HuRef2233,801,521 - 233,845,836 (-)NCBI
CHM1_12242,051,569 - 242,094,975 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246991   ⟹   XP_005247048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,481 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510828   ⟹   XP_011509130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,449 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510829   ⟹   XP_011509131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,150,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510830   ⟹   XP_011509132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510831   ⟹   XP_011509133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,150,264 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510832   ⟹   XP_011509134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,150,264 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510833   ⟹   XP_011509135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,481 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510834   ⟹   XP_011509136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,133,778 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510835   ⟹   XP_011509137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,135,111 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003635   ⟹   XP_016859124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,149,449 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003636   ⟹   XP_016859125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,106,099 - 241,150,180 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738678
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,107,465 - 241,149,496 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001239048 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239049 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239051 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239053 (Get FASTA)   NCBI Sequence Viewer  
  NP_055963 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247048 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509130 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509131 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509132 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509133 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509134 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509135 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509136 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509137 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859124 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859125 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB50198 (Get FASTA)   NCBI Sequence Viewer  
  AAC23506 (Get FASTA)   NCBI Sequence Viewer  
  AAH43495 (Get FASTA)   NCBI Sequence Viewer  
  AAH50565 (Get FASTA)   NCBI Sequence Viewer  
  AAH63585 (Get FASTA)   NCBI Sequence Viewer  
  AAK69752 (Get FASTA)   NCBI Sequence Viewer  
  BAA09484 (Get FASTA)   NCBI Sequence Viewer  
  BAH12460 (Get FASTA)   NCBI Sequence Viewer  
  BAH13702 (Get FASTA)   NCBI Sequence Viewer  
  BAH13743 (Get FASTA)   NCBI Sequence Viewer  
  CAB55901 (Get FASTA)   NCBI Sequence Viewer  
  CAH18087 (Get FASTA)   NCBI Sequence Viewer  
  EAW71236 (Get FASTA)   NCBI Sequence Viewer  
  EAW71237 (Get FASTA)   NCBI Sequence Viewer  
  EAW71238 (Get FASTA)   NCBI Sequence Viewer  
  EAW71239 (Get FASTA)   NCBI Sequence Viewer  
  EAW71240 (Get FASTA)   NCBI Sequence Viewer  
  EAW71241 (Get FASTA)   NCBI Sequence Viewer  
  EAW71242 (Get FASTA)   NCBI Sequence Viewer  
  Q96RG2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055963   ⟸   NM_015148
- Peptide Label: isoform 2
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001239049   ⟸   NM_001252120
- Peptide Label: isoform 2
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001239051   ⟸   NM_001252122
- Peptide Label: isoform 3
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot),   B7Z7R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239048   ⟸   NM_001252119
- Peptide Label: isoform 1
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001239053   ⟸   NM_001252124
- Peptide Label: isoform 4
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247048   ⟸   XM_005246991
- Peptide Label: isoform X6
- UniProtKB: B7Z7V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509131   ⟸   XM_011510829
- Peptide Label: isoform X1
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509134   ⟸   XM_011510832
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011509133   ⟸   XM_011510831
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509132   ⟸   XM_011510830
- Peptide Label: isoform X1
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509135   ⟸   XM_011510833
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509130   ⟸   XM_011510828
- Peptide Label: isoform X1
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509137   ⟸   XM_011510835
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011509136   ⟸   XM_011510834
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016859125   ⟸   XM_017003636
- Peptide Label: isoform X2
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859124   ⟸   XM_017003635
- Peptide Label: isoform X2
- UniProtKB: Q96RG2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000408506   ⟸   ENST00000437780
RefSeq Acc Id: ENSP00000441374   ⟸   ENST00000544142
RefSeq Acc Id: ENSP00000397922   ⟸   ENST00000452907
RefSeq Acc Id: ENSP00000400734   ⟸   ENST00000415234
RefSeq Acc Id: ENSP00000384438   ⟸   ENST00000403638
RefSeq Acc Id: ENSP00000486149   ⟸   ENST00000629419
RefSeq Acc Id: ENSP00000384016   ⟸   ENST00000405260
RefSeq Acc Id: ENSP00000234040   ⟸   ENST00000234040
RefSeq Acc Id: ENSP00000395672   ⟸   ENST00000433589
RefSeq Acc Id: ENSP00000351475   ⟸   ENST00000358649
Protein Domains
PAS   Protein kinase

Promoters
RGD ID:6863334
Promoter ID:EPDNEW_H4832
Type:initiation region
Name:PASK_1
Description:PAS domain containing serine/threonine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4834  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,449 - 241,149,509EPDNEW
RGD ID:6863338
Promoter ID:EPDNEW_H4834
Type:initiation region
Name:PASK_2
Description:PAS domain containing serine/threonine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4832  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,150,222 - 241,150,282EPDNEW
RGD ID:6797911
Promoter ID:HG_KWN:38160
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000323756
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,696,986 - 241,698,817 (-)MPROMDB
RGD ID:6797914
Promoter ID:HG_KWN:38161
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000323765,   OTTHUMT00000323766
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,700,346 - 241,700,967 (-)MPROMDB
RGD ID:6797912
Promoter ID:HG_KWN:38162
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000323763
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,715,569 - 241,716,069 (-)MPROMDB
RGD ID:6797910
Promoter ID:HG_KWN:38163
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000323755
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,720,934 - 241,721,434 (-)MPROMDB
RGD ID:6797915
Promoter ID:HG_KWN:38166
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358649,   ENST00000403638,   ENST00000405260,   OTTHUMT00000257246,   OTTHUMT00000323757,   OTTHUMT00000323758,   OTTHUMT00000323760
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,737,511 - 241,738,337 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3 copy number gain See cases [RCV000052979] Chr2:240712924..241408725 [GRCh38]
Chr2:241652341..242348140 [GRCh37]
Chr2:241301014..241996813 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 copy number gain See cases [RCV000052980] Chr2:240910571..242126392 [GRCh38]
Chr2:241849988..243059659 [GRCh37]
Chr2:241498661..242717216 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
NM_015148.3(PASK):c.3511C>T (p.Pro1171Ser) single nucleotide variant Malignant melanoma [RCV000065504] Chr2:241112262 [GRCh38]
Chr2:242051677 [GRCh37]
Chr2:241700350 [NCBI36]
Chr2:2q37.3
not provided
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_015148.4(PASK):c.3533+1G>A single nucleotide variant Chronic kidney disease [RCV001262585]|not specified [RCV000238943] Chr2:241112239 [GRCh38]
Chr2:242051654 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 copy number loss See cases [RCV000448540] Chr2:242045569..243040217 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3 copy number gain See cases [RCV000512463] Chr2:241997911..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241704379-242375813)x4 copy number gain not provided [RCV000682097] Chr2:241704379..242375813 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 copy number loss not provided [RCV000682102] Chr2:242016876..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 copy number loss not provided [RCV000682110] Chr2:241810311..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 copy number loss not provided [RCV000741039] Chr2:241847589..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241860911-242072015)x3 copy number gain not provided [RCV000741041] Chr2:241860911..242072015 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.3648G>A (p.Pro1216=) single nucleotide variant not provided [RCV000923152] Chr2:241108186 [GRCh38]
Chr2:242047601 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.2549C>T (p.Thr850Met) single nucleotide variant not provided [RCV000970608] Chr2:241126366 [GRCh38]
Chr2:242065781 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2574G>A (p.Thr858=) single nucleotide variant not provided [RCV000970920] Chr2:241126341 [GRCh38]
Chr2:242065756 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2080G>A (p.Val694Met) single nucleotide variant not provided [RCV000970609] Chr2:241126835 [GRCh38]
Chr2:242066250 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2085G>A (p.Ser695=) single nucleotide variant not provided [RCV000902186] Chr2:241126830 [GRCh38]
Chr2:242066245 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.1341C>T (p.His447=) single nucleotide variant not provided [RCV000897942] Chr2:241132996 [GRCh38]
Chr2:242072411 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV000885045] Chr2:241138025 [GRCh38]
Chr2:242077440 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.1363C>T (p.Arg455Trp) single nucleotide variant not provided [RCV000946706] Chr2:241132974 [GRCh38]
Chr2:242072389 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.303G>A (p.Pro101=) single nucleotide variant not provided [RCV000946707] Chr2:241140647 [GRCh38]
Chr2:242080062 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
NM_015148.4(PASK):c.3359G>A (p.Arg1120His) single nucleotide variant not provided [RCV000918104] Chr2:241112414 [GRCh38]
Chr2:242051829 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.2165T>C (p.Leu722Pro) single nucleotide variant not provided [RCV000925111] Chr2:241126750 [GRCh38]
Chr2:242066165 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.1746C>T (p.Ser582=) single nucleotide variant not provided [RCV000960241] Chr2:241127169 [GRCh38]
Chr2:242066584 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.3546G>A (p.Pro1182=) single nucleotide variant not provided [RCV000899060] Chr2:241108288 [GRCh38]
Chr2:242047703 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.996G>A (p.Val332=) single nucleotide variant not provided [RCV000927287] Chr2:241137145 [GRCh38]
Chr2:242076560 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1 copy number loss not provided [RCV001005387] Chr2:241880799..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241582582-242285265)x3 copy number gain not provided [RCV000846002] Chr2:241582582..242285265 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 copy number loss not provided [RCV001005388] Chr2:242011633..243199373 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 copy number loss not provided [RCV000997728] Chr2:241404033..242684292 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_015148.4(PASK):c.2367G>A (p.Ser789=) single nucleotide variant not provided [RCV000969450] Chr2:241126548 [GRCh38]
Chr2:242065963 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2576G>A (p.Cys859Tyr) single nucleotide variant not provided [RCV000888056] Chr2:241126339 [GRCh38]
Chr2:242065754 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.3927C>T (p.Gly1309=) single nucleotide variant not provided [RCV000903404] Chr2:241106611 [GRCh38]
Chr2:242046026 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.1314G>A (p.Arg438=) single nucleotide variant not provided [RCV000905858] Chr2:241133023 [GRCh38]
Chr2:242072438 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.716C>T (p.Ser239Leu) single nucleotide variant not provided [RCV000909360] Chr2:241138679 [GRCh38]
Chr2:242078094 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2810G>A (p.Arg937His) single nucleotide variant not provided [RCV000973019] Chr2:241124043 [GRCh38]
Chr2:242063458 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2085G>C (p.Ser695=) single nucleotide variant not provided [RCV000974957] Chr2:241126830 [GRCh38]
Chr2:242066245 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.435G>C (p.Leu145=) single nucleotide variant not provided [RCV000974958] Chr2:241140050 [GRCh38]
Chr2:242079465 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.212C>T (p.Ser71Phe) single nucleotide variant not provided [RCV000974959] Chr2:241140738 [GRCh38]
Chr2:242080153 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.2054C>G (p.Thr685Arg) single nucleotide variant not provided [RCV000968934] Chr2:241126861 [GRCh38]
Chr2:242066276 [GRCh37]
Chr2:2q37.3
likely benign
NM_015148.4(PASK):c.2695T>C (p.Tyr899His) single nucleotide variant not provided [RCV000957831] Chr2:241126220 [GRCh38]
Chr2:242065635 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2344G>C (p.Gly782Arg) single nucleotide variant not provided [RCV000889928] Chr2:241126571 [GRCh38]
Chr2:242065986 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.3956G>A (p.Arg1319His) single nucleotide variant not provided [RCV000889927] Chr2:241106582 [GRCh38]
Chr2:242045997 [GRCh37]
Chr2:2q37.3
benign
NM_015148.4(PASK):c.2532A>G (p.Pro844=) single nucleotide variant not provided [RCV000957832] Chr2:241126383 [GRCh38]
Chr2:242065798 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_241808273)_(242708241_?)del deletion not provided [RCV001031165] Chr2:241808273..242708241 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17270 AgrOrtholog
COSMIC PASK COSMIC
Ensembl Genes ENSG00000115687 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000234040 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000351475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384016 UniProtKB/Swiss-Prot
  ENSP00000384438 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395672 UniProtKB/TrEMBL
  ENSP00000397922 UniProtKB/TrEMBL
  ENSP00000400734 UniProtKB/TrEMBL
  ENSP00000408506 UniProtKB/TrEMBL
  ENSP00000441374 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486149 UniProtKB/TrEMBL
Ensembl Transcript ENST00000234040 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358649 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000403638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405260 UniProtKB/Swiss-Prot
  ENST00000415234 UniProtKB/TrEMBL
  ENST00000433589 UniProtKB/TrEMBL
  ENST00000437780 UniProtKB/TrEMBL
  ENST00000452907 UniProtKB/TrEMBL
  ENST00000544142 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000629419 UniProtKB/TrEMBL
GTEx ENSG00000115687 GTEx
HGNC ID HGNC:17270 ENTREZGENE
Human Proteome Map PASK Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23178 UniProtKB/Swiss-Prot
NCBI Gene 23178 ENTREZGENE
OMIM 607505 OMIM
Pfam PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32953 PharmGKB
PROSITE PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs sensory_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z7R6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z7V7 ENTREZGENE, UniProtKB/TrEMBL
  C9J1Z3_HUMAN UniProtKB/TrEMBL
  C9J4R3_HUMAN UniProtKB/TrEMBL
  F8WEB4_HUMAN UniProtKB/TrEMBL
  H7C0L7_HUMAN UniProtKB/TrEMBL
  PASK_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary G5E9F1 UniProtKB/Swiss-Prot
  Q05BE4 UniProtKB/Swiss-Prot
  Q68DY3 UniProtKB/Swiss-Prot
  Q6GSJ5 UniProtKB/Swiss-Prot
  Q86XH6 UniProtKB/Swiss-Prot
  Q99763 UniProtKB/Swiss-Prot
  Q9UFR7 UniProtKB/Swiss-Prot