GPHN (gephyrin) - Rat Genome Database

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Gene: GPHN (gephyrin) Homo sapiens
Analyze
Symbol: GPHN
Name: gephyrin
RGD ID: 69477
HGNC Page HGNC:15465
Description: Enables identical protein binding activity; molybdopterin cofactor binding activity; and nitrate reductase activity. Involved in gamma-aminobutyric acid receptor clustering; molybdopterin cofactor biosynthetic process; and response to metal ion. Located in dendrite and postsynaptic membrane. Implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GEPH; GPH; GPHRYN; HKPX1; KIAA1385; MOCODC
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
GRCh381466,508,147 - 67,735,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1466,507,407 - 67,181,803 (+)EnsemblGRCh38hg38GRCh38
GRCh371466,974,865 - 67,648,520 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361466,043,878 - 66,718,278 (+)NCBINCBI36Build 36hg18NCBI36
Build 341466,044,988 - 66,718,268NCBI
Celera1447,033,183 - 47,707,584 (+)NCBICelera
Cytogenetic Map14q23.3-q24.1NCBI
HuRef1447,144,073 - 47,817,837 (+)NCBIHuRef
CHM1_11466,912,247 - 67,587,111 (+)NCBICHM1_1
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
cerium trichloride  (ISO)
chloroacetaldehyde  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
coumarin  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
flutamide  (ISO)
fulvestrant  (EXP)
glafenine  (ISO)
Heliotrine  (EXP)
irinotecan  (ISO)
ivermectin  (EXP)
metformin  (ISO)
methapyrilene  (EXP,ISO)
methoxychlor  (ISO)
N-methyl-D-aspartic acid  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
senecionine  (EXP)
Senkirkine  (EXP)
sevoflurane  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
topotecan  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Cell biology of molybdenum. Mendel RR and Bittner F, Biochim Biophys Acta. 2006 Jul;1763(7):621-35. Epub 2006 May 12.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein. Prior P, etal., Neuron 1992 Jun;8(6):1161-70.
6. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Reiss J and Johnson JL, Hum Mutat 2003 Jun;21(6):569-76.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Biochemical characterization of the high affinity binding between the glycine receptor and gephyrin. Schrader N, etal., J Biol Chem 2004 Apr 30;279(18):18733-41. Epub 2004 Feb 19.
Additional References at PubMed
PMID:1657993   PMID:7546736   PMID:9473484   PMID:9990024   PMID:10037506   PMID:10325225   PMID:10607391   PMID:10718198   PMID:10839351   PMID:10900017   PMID:10947798   PMID:11095995  
PMID:11418245   PMID:11554796   PMID:11727829   PMID:12097491   PMID:12477932   PMID:12535948   PMID:12684523   PMID:12967995   PMID:14622920   PMID:14751928   PMID:15489334   PMID:16376568  
PMID:16964243   PMID:17293395   PMID:17347650   PMID:18315564   PMID:18334916   PMID:18403029   PMID:19615732   PMID:19874574   PMID:19913121   PMID:20206270   PMID:20301437   PMID:20360068  
PMID:20379614   PMID:20468064   PMID:20622020   PMID:20628086   PMID:21071388   PMID:21094642   PMID:21404332   PMID:21726808   PMID:21829170   PMID:21873635   PMID:21988832   PMID:22270318  
PMID:22778260   PMID:22863883   PMID:23077067   PMID:23184456   PMID:23290196   PMID:23393157   PMID:23408424   PMID:24128675   PMID:24297911   PMID:24561070   PMID:24643514   PMID:25025157  
PMID:25531214   PMID:25609649   PMID:25690317   PMID:25755278   PMID:25813846   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26511642   PMID:26613940   PMID:26972000   PMID:27002143  
PMID:27173435   PMID:28073605   PMID:28514442   PMID:28581483   PMID:28675297   PMID:28883437   PMID:29507755   PMID:29549242   PMID:29778605   PMID:29791485   PMID:30890647   PMID:31006538  
PMID:31091453   PMID:31780880   PMID:32203420   PMID:32239614   PMID:32296183   PMID:32572027   PMID:32807901   PMID:33060197   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125  
PMID:34432599   PMID:34870926   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35563538   PMID:35717442   PMID:35987950  


Genomics

Comparative Map Data
GPHN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381466,508,147 - 67,735,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1466,507,407 - 67,181,803 (+)EnsemblGRCh38hg38GRCh38
GRCh371466,974,865 - 67,648,520 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361466,043,878 - 66,718,278 (+)NCBINCBI36Build 36hg18NCBI36
Build 341466,044,988 - 66,718,268NCBI
Celera1447,033,183 - 47,707,584 (+)NCBICelera
Cytogenetic Map14q23.3-q24.1NCBI
HuRef1447,144,073 - 47,817,837 (+)NCBIHuRef
CHM1_11466,912,247 - 67,587,111 (+)NCBICHM1_1
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBIT2T-CHM13v2.0
Gphn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391278,264,099 - 78,731,546 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1278,273,153 - 78,731,546 (+)EnsemblGRCm39 Ensembl
GRCm381278,217,325 - 78,684,772 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1278,226,379 - 78,684,772 (+)EnsemblGRCm38mm10GRCm38
MGSCv371279,327,642 - 79,785,759 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361279,145,574 - 79,603,578 (+)NCBIMGSCv36mm8
Celera1279,690,472 - 80,148,022 (+)NCBICelera
Cytogenetic Map12C3NCBI
Gphn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2696,954,365 - 97,483,617 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl696,892,148 - 97,483,612 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx697,388,022 - 97,920,426 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0697,687,169 - 98,219,588 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0697,077,693 - 97,599,233 (+)NCBIRnor_WKY
Rnor_6.06101,327,874 - 101,859,169 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6101,532,518 - 101,859,164 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06110,709,516 - 111,190,440 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.06111,210,069 - 111,237,661 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46100,833,004 - 101,302,957 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16100,836,459 - 101,306,408 (+)NCBI
Celera695,358,601 - 95,872,910 (+)NCBICelera
Cytogenetic Map6q24NCBI
Gphn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554663,016,479 - 3,526,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554663,017,474 - 3,526,375 (-)NCBIChiLan1.0ChiLan1.0
GPHN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11465,963,473 - 66,634,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1466,137,166 - 66,634,550 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01447,081,527 - 47,755,182 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GPHN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1840,585,625 - 41,204,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl840,585,883 - 41,203,245 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha840,270,522 - 40,895,744 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0840,807,578 - 41,430,716 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl840,807,424 - 41,430,706 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1840,427,159 - 41,049,600 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0840,497,926 - 41,123,844 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0840,856,432 - 41,482,422 (+)NCBIUU_Cfam_GSD_1.0
Gphn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864063,626,233 - 64,220,771 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364959,972,007 - 10,564,591 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364959,970,683 - 10,565,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPHN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl790,346,714 - 90,916,455 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1790,345,726 - 90,913,625 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2796,902,547 - 97,222,781 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GPHN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12443,702,384 - 44,421,890 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2443,880,344 - 44,422,276 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605331,896,980 - 32,651,860 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gphn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473433,870,997 - 34,483,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473433,871,664 - 34,483,770 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPHN
862 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2128
Count of miRNA genes:863
Interacting mature miRNAs:995
Transcripts:ENST00000305960, ENST00000315266, ENST00000459628, ENST00000478722, ENST00000543237, ENST00000544752, ENST00000553936, ENST00000555456, ENST00000555503, ENST00000555527, ENST00000555668, ENST00000556020, ENST00000556240, ENST00000556501, ENST00000556633, ENST00000557654, ENST00000557678
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.

Markers in Region
D14S298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,023,907 - 67,024,108UniSTSGRCh37
Build 361466,093,660 - 66,093,861RGDNCBI36
Celera1447,082,965 - 47,083,166RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,193,807 - 47,194,008UniSTS
TNG Radiation Hybrid Map1422081.0UniSTS
Stanford-G3 RH Map142315.0UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14655.5UniSTS
SHGC-31433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,458,147 - 67,458,276UniSTSGRCh37
Build 361466,527,900 - 66,528,029RGDNCBI36
Celera1447,517,203 - 47,517,332RGD
Cytogenetic Map14q23.3UniSTS
TNG Radiation Hybrid Map1423257.0UniSTS
Stanford-G3 RH Map142331.0UniSTS
NCBI RH Map14656.3UniSTS
GeneMap99-G3 RH Map142379.0UniSTS
RH70171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,206,323 - 67,206,487UniSTSGRCh37
Build 361466,276,076 - 66,276,240RGDNCBI36
Celera1447,265,381 - 47,265,545RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,376,363 - 47,376,527UniSTS
GeneMap99-GB4 RH Map14157.44UniSTS
NCBI RH Map14647.8UniSTS
SHGC-30989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,454,841 - 67,454,940UniSTSGRCh37
Build 361466,524,594 - 66,524,693RGDNCBI36
Celera1447,513,897 - 47,513,996RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,624,753 - 47,624,852UniSTS
GeneMap99-GB4 RH Map14157.44UniSTS
Whitehead-RH Map14240.3UniSTS
NCBI RH Map14647.8UniSTS
GeneMap99-G3 RH Map142379.0UniSTS
RH98697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,091,677 - 67,091,775UniSTSGRCh37
Build 361466,161,430 - 66,161,528RGDNCBI36
Celera1447,150,736 - 47,150,834RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,261,578 - 47,261,676UniSTS
GeneMap99-GB4 RH Map14157.72UniSTS
RH27236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,128,875 - 67,129,124UniSTSGRCh37
Build 361466,198,628 - 66,198,877RGDNCBI36
Celera1447,187,933 - 47,188,182RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,298,775 - 47,299,024UniSTS
SHGC-79872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,105,683 - 67,105,978UniSTSGRCh37
Build 361466,175,436 - 66,175,731RGDNCBI36
Celera1447,164,742 - 47,165,037RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,275,584 - 47,275,879UniSTS
TNG Radiation Hybrid Map1421981.0UniSTS
RH123876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,488,002 - 67,488,280UniSTSGRCh37
Build 361466,557,755 - 66,558,033RGDNCBI36
Celera1447,547,057 - 47,547,335RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,657,906 - 47,658,184UniSTS
TNG Radiation Hybrid Map1423263.0UniSTS
G63705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,084,398 - 67,084,722UniSTSGRCh37
Build 361466,154,151 - 66,154,475RGDNCBI36
Celera1447,143,457 - 47,143,781RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,254,299 - 47,254,623UniSTS
TNG Radiation Hybrid Map1422018.0UniSTS
SHGC-111965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,007,261 - 67,007,456UniSTSGRCh37
Build 361466,077,014 - 66,077,209RGDNCBI36
Celera1447,066,319 - 47,066,514RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,177,210 - 47,177,405UniSTS
TNG Radiation Hybrid Map1421931.0UniSTS
RH46412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,334,198 - 67,334,320UniSTSGRCh37
Build 361466,403,951 - 66,404,073RGDNCBI36
Celera1447,393,250 - 47,393,372RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,504,112 - 47,504,234UniSTS
GeneMap99-GB4 RH Map14159.12UniSTS
NCBI RH Map14647.8UniSTS
STS-F04665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,128,865 - 67,128,934UniSTSGRCh37
Build 361466,198,618 - 66,198,687RGDNCBI36
Celera1447,187,923 - 47,187,992RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,298,765 - 47,298,834UniSTS
GeneMap99-GB4 RH Map14157.44UniSTS
NCBI RH Map14647.8UniSTS
G16723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37417,050,480 - 17,050,583UniSTSGRCh37
GRCh371467,444,136 - 67,444,909UniSTSGRCh37
Build 36416,659,578 - 16,659,681RGDNCBI36
Celera1447,503,192 - 47,503,965UniSTS
Celera417,515,181 - 17,515,284RGD
Cytogenetic Map14q23.3UniSTS
HuRef416,405,147 - 16,405,250UniSTS
HuRef1447,614,048 - 47,614,821UniSTS
G65629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,457,663 - 67,458,168UniSTSGRCh37
Build 361466,527,416 - 66,527,921RGDNCBI36
Celera1447,516,719 - 47,517,224RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,627,575 - 47,628,080UniSTS
WI-16924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,402,591 - 67,402,716UniSTSGRCh37
Build 361466,472,344 - 66,472,469RGDNCBI36
Celera1447,461,646 - 47,461,771RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,572,501 - 47,572,626UniSTS
GeneMap99-GB4 RH Map14157.44UniSTS
Whitehead-RH Map14240.3UniSTS
NCBI RH Map14647.8UniSTS
STS-N34544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,648,233 - 67,648,467UniSTSGRCh37
Build 361466,717,986 - 66,718,220RGDNCBI36
Celera1447,707,292 - 47,707,526RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,817,545 - 47,817,779UniSTS
GeneMap99-GB4 RH Map14158.04UniSTS
NCBI RH Map14647.8UniSTS
G35432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,419,248 - 67,419,373UniSTSGRCh37
Build 361466,489,001 - 66,489,126RGDNCBI36
Celera1447,478,304 - 47,478,429RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,589,160 - 47,589,285UniSTS
WI-22628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,206,321 - 67,206,528UniSTSGRCh37
Build 361466,276,074 - 66,276,281RGDNCBI36
Celera1447,265,379 - 47,265,586RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,376,361 - 47,376,568UniSTS
GeneMap99-GB4 RH Map14157.44UniSTS
Whitehead-RH Map14240.3UniSTS
NCBI RH Map14647.8UniSTS
G35673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,189,062 - 67,189,204UniSTSGRCh37
Build 361466,258,815 - 66,258,957RGDNCBI36
Celera1447,248,120 - 47,248,262RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,359,102 - 47,359,244UniSTS
G36288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,097,567 - 67,097,670UniSTSGRCh37
Build 361466,167,320 - 66,167,423RGDNCBI36
Celera1447,156,626 - 47,156,729RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,267,468 - 47,267,571UniSTS
D14S883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,389,992 - 67,390,119UniSTSGRCh37
Build 361466,459,745 - 66,459,872RGDNCBI36
Celera1447,449,047 - 47,449,174RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,559,931 - 47,560,058UniSTS
Whitehead-RH Map14242.2UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14647.8UniSTS
RH66202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,617,564 - 67,617,788UniSTSGRCh37
Build 361466,687,317 - 66,687,541RGDNCBI36
Celera1447,676,623 - 47,676,847RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,786,875 - 47,787,099UniSTS
GeneMap99-GB4 RH Map14157.72UniSTS
NCBI RH Map14647.8UniSTS
WI-22778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,352,438 - 67,352,539UniSTSGRCh37
Build 361466,422,191 - 66,422,292RGDNCBI36
Celera1447,411,492 - 47,411,593RGD
Cytogenetic Map14q23.3UniSTS
HuRef1447,522,354 - 47,522,455UniSTS
GeneMap99-GB4 RH Map14157.44UniSTS
Whitehead-RH Map14240.3UniSTS
NCBI RH Map14647.8UniSTS
MARC_1069-1070:991929832:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371467,647,559 - 67,647,726UniSTSGRCh37
Build 361466,717,312 - 66,717,479RGDNCBI36
Celera1447,706,618 - 47,706,785RGD
HuRef1447,816,871 - 47,817,038UniSTS


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 169 137 551 221 482 224 1442 271 2228 185 264 517 8 1 270 959
Low 2269 2557 1173 401 1103 239 2914 1914 1505 234 1195 1095 166 934 1829 5 2
Below cutoff 1 297 2 2 338 2 10 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ575870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000315266   ⟹   ENSP00000312771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,507,407 - 67,181,798 (+)Ensembl
RefSeq Acc Id: ENST00000459628   ⟹   ENSP00000452220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,138 - 67,059,029 (+)Ensembl
RefSeq Acc Id: ENST00000478722   ⟹   ENSP00000417901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,147 - 67,181,803 (+)Ensembl
RefSeq Acc Id: ENST00000543237   ⟹   ENSP00000438404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,504 - 67,181,023 (+)Ensembl
RefSeq Acc Id: ENST00000544752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,823,095 - 67,181,093 (+)Ensembl
RefSeq Acc Id: ENST00000553936   ⟹   ENSP00000451725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,516 - 66,916,034 (+)Ensembl
RefSeq Acc Id: ENST00000555456   ⟹   ENSP00000450706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,824,474 - 67,058,726 (+)Ensembl
RefSeq Acc Id: ENST00000555503   ⟹   ENSP00000452009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1467,113,070 - 67,169,136 (+)Ensembl
RefSeq Acc Id: ENST00000555527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1467,111,915 - 67,168,991 (+)Ensembl
RefSeq Acc Id: ENST00000555668   ⟹   ENSP00000451935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,507 - 66,880,032 (+)Ensembl
RefSeq Acc Id: ENST00000556020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,509,059 - 66,824,554 (+)Ensembl
RefSeq Acc Id: ENST00000556240   ⟹   ENSP00000450442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1467,180,849 - 67,181,792 (+)Ensembl
RefSeq Acc Id: ENST00000556501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1467,058,649 - 67,110,287 (+)Ensembl
RefSeq Acc Id: ENST00000556633   ⟹   ENSP00000451056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,507 - 66,922,758 (+)Ensembl
RefSeq Acc Id: ENST00000557654   ⟹   ENSP00000451790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1466,508,516 - 66,880,033 (+)Ensembl
RefSeq Acc Id: ENST00000557678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1467,143,001 - 67,165,230 (+)Ensembl
RefSeq Acc Id: NM_001024218   ⟹   NP_001019389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
GRCh371466,974,125 - 67,648,525 (+)ENTREZGENE
GRCh371466,974,125 - 67,648,525 (+)NCBI
Build 361466,043,878 - 66,718,278 (+)NCBI Archive
HuRef1447,144,073 - 47,817,837 (+)ENTREZGENE
CHM1_11466,912,247 - 67,587,111 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377514   ⟹   NP_001364443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377515   ⟹   NP_001364444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377516   ⟹   NP_001364445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377517   ⟹   NP_001364446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377518   ⟹   NP_001364447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377519   ⟹   NP_001364448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020806   ⟹   NP_065857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
GRCh371466,974,125 - 67,648,525 (+)ENTREZGENE
GRCh371466,974,125 - 67,648,525 (+)NCBI
Build 361466,043,878 - 66,718,278 (+)NCBI Archive
HuRef1447,144,073 - 47,817,837 (+)ENTREZGENE
CHM1_11466,912,247 - 67,587,111 (+)NCBI
T2T-CHM13v2.01460,715,132 - 61,388,926 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536340   ⟹   XP_011534642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536342   ⟹   XP_011534644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536343   ⟹   XP_011534645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536344   ⟹   XP_011534646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381466,508,147 - 67,181,803 (+)NCBI
Sequence: