AMBRA1 (autophagy and beclin 1 regulator 1) - Rat Genome Database

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Gene: AMBRA1 (autophagy and beclin 1 regulator 1) Homo sapiens
Analyze
Symbol: AMBRA1
Name: autophagy and beclin 1 regulator 1
RGD ID: 1604349
HGNC Page HGNC:25990
Description: Enables enzyme binding activity and ubiquitin ligase-substrate adaptor activity. Involved in several processes, including macroautophagy; positive regulation of cellular component organization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in cytoskeleton; mitochondrion; and nucleus. Biomarker of multiple system atrophy.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: activating molecule in beclin-1-regulated autophagy; activating molecule in BECN1-regulated autophagy protein 1; autophagy/beclin-1 regulator 1; DCAF3; DDB1 and CUL4 associated factor 3; FLJ20294; KIAA1736; MGC33725; WD repeat domain 94; WDR94
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
GRCh381146,396,412 - 46,594,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,396,414 - 46,594,125 (-)EnsemblGRCh38hg38GRCh38
GRCh371146,417,962 - 46,615,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,374,541 - 46,569,490 (-)NCBINCBI36Build 36hg18NCBI36
Celera1146,566,035 - 46,760,894 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,124,697 - 46,322,307 (-)NCBIHuRef
CHM1_11146,416,414 - 46,614,031 (-)NCBICHM1_1
T2T-CHM13v2.01146,552,487 - 46,750,082 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. Mitochondria and mitophagy: the yin and yang of cell death control. Kubli DA and Gustafsson AB, Circ Res. 2012 Oct 12;111(9):1208-21. doi: 10.1161/CIRCRESAHA.112.265819.
2. AMBRA1, a novel α-synuclein-binding protein, is implicated in the pathogenesis of multiple system atrophy. Miki Y, etal., Brain Pathol. 2018 Jan;28(1):28-42. doi: 10.1111/bpa.12461. Epub 2017 Mar 15.
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Expression of Ambra1 in mouse brain during physiological and Alzheimer type aging. Sepe S, etal., Neurobiol Aging. 2014 Jan;35(1):96-108. doi: 10.1016/j.neurobiolaging.2013.07.001. Epub 2013 Aug 2.
Additional References at PubMed
PMID:11214970   PMID:12107410   PMID:12477932   PMID:14702039   PMID:16344560   PMID:16949367   PMID:17589504   PMID:17603510   PMID:17622796   PMID:19295130   PMID:19615732   PMID:20360068  
PMID:20562859   PMID:20694011   PMID:20711182   PMID:20921139   PMID:21145461   PMID:21358617   PMID:21753002   PMID:21873635   PMID:22190034   PMID:22441670   PMID:23069654   PMID:23429496  
PMID:23524951   PMID:23551272   PMID:23954414   PMID:23974797   PMID:24337577   PMID:24587252   PMID:24879156   PMID:24980959   PMID:25127057   PMID:25215947   PMID:25437307   PMID:25438055  
PMID:25499913   PMID:25515538   PMID:25803737   PMID:25891078   PMID:26086269   PMID:26186194   PMID:26423274   PMID:26496610   PMID:26763392   PMID:26972000   PMID:27173435   PMID:27375898  
PMID:27432908   PMID:27545878   PMID:28059583   PMID:28224423   PMID:28514442   PMID:28675297   PMID:28883622   PMID:28994820   PMID:29101240   PMID:29117863   PMID:29467282   PMID:29507755  
PMID:29509794   PMID:29563501   PMID:30027574   PMID:30166453   PMID:30217973   PMID:30258449   PMID:30513302   PMID:31056744   PMID:31123703   PMID:31155351   PMID:31253590   PMID:31434979  
PMID:31586073   PMID:31741433   PMID:31753913   PMID:31973889   PMID:32333458   PMID:32453962   PMID:32513696   PMID:32616651   PMID:32707033   PMID:33172332   PMID:33306668   PMID:33562550  
PMID:33729478   PMID:33854232   PMID:33854235   PMID:33854239   PMID:33953176   PMID:33961781   PMID:34017080   PMID:34237211   PMID:34244565   PMID:34302498   PMID:34362797   PMID:34495753  
PMID:34642328   PMID:34728620   PMID:34769507   PMID:34798798   PMID:34941261   PMID:35032548   PMID:35256949   PMID:35271311   PMID:35748872   PMID:35819319   PMID:35944360   PMID:36082712  
PMID:36114006   PMID:36243772   PMID:36537216   PMID:36538041   PMID:36688959   PMID:37225761   PMID:37499664   PMID:37689310   PMID:37806389   PMID:38497391  


Genomics

Comparative Map Data
AMBRA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,396,412 - 46,594,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,396,414 - 46,594,125 (-)EnsemblGRCh38hg38GRCh38
GRCh371146,417,962 - 46,615,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,374,541 - 46,569,490 (-)NCBINCBI36Build 36hg18NCBI36
Celera1146,566,035 - 46,760,894 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,124,697 - 46,322,307 (-)NCBIHuRef
CHM1_11146,416,414 - 46,614,031 (-)NCBICHM1_1
T2T-CHM13v2.01146,552,487 - 46,750,082 (-)NCBIT2T-CHM13v2.0
Ambra1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,560,464 - 91,749,194 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl291,560,479 - 91,749,194 (+)EnsemblGRCm39 Ensembl
GRCm38291,730,138 - 91,918,849 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,730,134 - 91,918,849 (+)EnsemblGRCm38mm10GRCm38
MGSCv37291,570,295 - 91,759,006 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36291,531,062 - 91,719,688 (+)NCBIMGSCv36mm8
Celera293,119,370 - 93,309,250 (+)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
Ambra1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,156,626 - 98,345,876 (+)NCBIGRCr8
mRatBN7.2377,700,936 - 77,890,221 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,700,936 - 77,890,221 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,176,110 - 81,365,398 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0389,775,135 - 89,964,426 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0387,626,389 - 87,815,655 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0380,634,470 - 80,830,068 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl380,634,470 - 80,830,068 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,332,352 - 87,528,736 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,109,632 - 76,298,784 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1376,049,420 - 76,098,445 (+)NCBI
Celera376,904,996 - 77,092,869 (+)NCBICelera
Cytogenetic Map3q24NCBI
Ambra1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554221,455,380 - 1,644,452 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,455,392 - 1,644,368 (+)NCBIChiLan1.0ChiLan1.0
AMBRA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,609,561 - 48,810,770 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,616,387 - 48,817,652 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01146,355,026 - 46,556,091 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11146,905,454 - 47,103,205 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,905,454 - 47,103,205 (-)Ensemblpanpan1.1panPan2
AMBRA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11842,903,815 - 43,073,918 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1842,932,513 - 43,072,827 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,632,454 - 41,802,531 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01843,559,883 - 43,730,082 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1843,559,910 - 43,764,738 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11843,045,129 - 43,215,092 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01842,596,905 - 42,766,984 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,330,120 - 43,500,181 (+)NCBIUU_Cfam_GSD_1.0
Ambra1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,382,209 - 20,565,226 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365622,493,774 - 2,676,912 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365622,493,823 - 2,676,868 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMBRA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl215,935,375 - 16,119,079 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1215,935,354 - 16,119,082 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,313,942 - 17,465,127 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AMBRA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1118,777,807 - 18,932,784 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl118,734,926 - 18,932,785 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,020,095 - 116,218,202 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ambra1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247671,966,898 - 2,160,465 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247671,967,002 - 2,160,102 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMBRA1
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3 copy number gain See cases [RCV000141333] Chr11:46420955..46728372 [GRCh38]
Chr11:46442505..46749922 [GRCh37]
Chr11:46399081..46706498 [NCBI36]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2638G>A (p.Val880Met) single nucleotide variant Inborn genetic diseases [RCV003244581] Chr11:46435032 [GRCh38]
Chr11:46456582 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p11.2(chr11:46560809-46720908)x1 copy number loss See cases [RCV000447241] Chr11:46560809..46720908 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001387011.1(AMBRA1):c.67A>G (p.Met23Val) single nucleotide variant Inborn genetic diseases [RCV003300536] Chr11:46548314 [GRCh38]
Chr11:46569864 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2746C>T (p.Pro916Ser) single nucleotide variant Inborn genetic diseases [RCV003262543] Chr11:46434924 [GRCh38]
Chr11:46456474 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3757C>T (p.Pro1253Ser) single nucleotide variant Inborn genetic diseases [RCV003289640] Chr11:46397590 [GRCh38]
Chr11:46419140 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3175G>A (p.Val1059Ile) single nucleotide variant Inborn genetic diseases [RCV003276848] Chr11:46410310 [GRCh38]
Chr11:46431860 [GRCh37]
Chr11:11p11.2		 uncertain significance
Single allele duplication Global developmental delay [RCV000677110] Chr11:46315434..46629277 [GRCh37]
Chr11:11p11.2		 uncertain significance
Single allele deletion not provided [RCV000677957] Chr11:46560512..46704422 [GRCh38]
Chr11:46582062..46725972 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46502259-46745473)x3 copy number gain not provided [RCV000683320] Chr11:46502259..46745473 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001387011.1(AMBRA1):c.2781C>G (p.Ala927=) single nucleotide variant not provided [RCV000970227] Chr11:46434889 [GRCh38]
Chr11:46456439 [GRCh37]
Chr11:11p11.2		 benign
NM_001387011.1(AMBRA1):c.1476G>A (p.Ser492=) single nucleotide variant not provided [RCV000959909] Chr11:46542541 [GRCh38]
Chr11:46564091 [GRCh37]
Chr11:11p11.2		 benign
NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val) single nucleotide variant Esophageal atresia [RCV000984639] Chr11:46545724 [GRCh38]
Chr11:46567274 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2498C>T (p.Ser833Phe) single nucleotide variant Neural tube defect [RCV001078209] Chr11:46493631 [GRCh38]
Chr11:46515181 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe) single nucleotide variant Neural tube defect [RCV001078211] Chr11:46410357 [GRCh38]
Chr11:46431907 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 copy number gain not provided [RCV000846414] Chr11:46302171..46783079 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3188G>C (p.Ser1063Thr) single nucleotide variant Inborn genetic diseases [RCV003245366] Chr11:46410297 [GRCh38]
Chr11:46431847 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1309C>T (p.Pro437Ser) single nucleotide variant Inborn genetic diseases [RCV003292802] Chr11:46542708 [GRCh38]
Chr11:46564258 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1302C>G (p.Ser434=) single nucleotide variant not provided [RCV000910670] Chr11:46542715 [GRCh38]
Chr11:46564265 [GRCh37]
Chr11:11p11.2		 benign
NM_001387011.1(AMBRA1):c.1090C>T (p.Leu364Phe) single nucleotide variant Neural tube defect [RCV001078208] Chr11:46542927 [GRCh38]
Chr11:46564477 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val) single nucleotide variant Neural tube defect [RCV001078210] Chr11:46433530 [GRCh38]
Chr11:46455080 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.(?_46366257)_(46744577_?)dup duplication not provided [RCV001032651] Chr11:46387807..46766127 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.239C>T (p.Thr80Met) single nucleotide variant Neural tube defect [RCV001078207] Chr11:46547252 [GRCh38]
Chr11:46568802 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1 copy number loss not provided [RCV001259091] Chr11:45995260..46536343 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3 copy number gain not provided [RCV001259093] Chr11:46123974..46442526 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3 copy number gain not provided [RCV001259094] Chr11:46418839..46753136 [GRCh37]
Chr11:11p11.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.(?_46569796)_(46742390_?)dup duplication not provided [RCV001346673] Chr11:46569796..46742390 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p11.2(chr11:46560809-46720908) copy number loss not specified [RCV002052927] Chr11:46560809..46720908 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46248477-46748132) copy number loss not specified [RCV002052926] Chr11:46248477..46748132 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46318032)_(46761066_?)dup duplication not provided [RCV001997118] Chr11:46318032..46761066 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_001387011.1(AMBRA1):c.2854A>G (p.Met952Val) single nucleotide variant Inborn genetic diseases [RCV003303866] Chr11:46433596 [GRCh38]
Chr11:46455146 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2989G>A (p.Val997Ile) single nucleotide variant Inborn genetic diseases [RCV002684927] Chr11:46418040 [GRCh38]
Chr11:46439590 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.473A>G (p.Asn158Ser) single nucleotide variant Inborn genetic diseases [RCV002840711] Chr11:46545682 [GRCh38]
Chr11:46567232 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1919C>T (p.Pro640Leu) single nucleotide variant Inborn genetic diseases [RCV002688253] Chr11:46542098 [GRCh38]
Chr11:46563648 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3458G>A (p.Arg1153Lys) single nucleotide variant Inborn genetic diseases [RCV002822204] Chr11:46397889 [GRCh38]
Chr11:46419439 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1076A>G (p.Gln359Arg) single nucleotide variant Inborn genetic diseases [RCV002661732] Chr11:46542941 [GRCh38]
Chr11:46564491 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3617C>T (p.Pro1206Leu) single nucleotide variant Inborn genetic diseases [RCV002660868] Chr11:46397730 [GRCh38]
Chr11:46419280 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3286G>A (p.Ala1096Thr) single nucleotide variant Inborn genetic diseases [RCV002702016] Chr11:46408630 [GRCh38]
Chr11:46430180 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001387011.1(AMBRA1):c.2240G>A (p.Arg747His) single nucleotide variant Inborn genetic diseases [RCV002708807] Chr11:46508290 [GRCh38]
Chr11:46529840 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2911A>G (p.Thr971Ala) single nucleotide variant Inborn genetic diseases [RCV002875164] Chr11:46433539 [GRCh38]
Chr11:46455089 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2050T>A (p.Ser684Thr) single nucleotide variant Inborn genetic diseases [RCV002767974] Chr11:46541967 [GRCh38]
Chr11:46563517 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2051C>T (p.Ser684Phe) single nucleotide variant Inborn genetic diseases [RCV002697079] Chr11:46541966 [GRCh38]
Chr11:46563516 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1573C>T (p.Pro525Ser) single nucleotide variant Inborn genetic diseases [RCV002709243] Chr11:46542444 [GRCh38]
Chr11:46563994 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1471A>T (p.Asn491Tyr) single nucleotide variant Inborn genetic diseases [RCV002709261] Chr11:46542546 [GRCh38]
Chr11:46564096 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.32G>A (p.Arg11Gln) single nucleotide variant Inborn genetic diseases [RCV002873365] Chr11:46548349 [GRCh38]
Chr11:46569899 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.80G>A (p.Arg27Gln) single nucleotide variant Inborn genetic diseases [RCV002931803] Chr11:46548301 [GRCh38]
Chr11:46569851 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1382C>T (p.Ser461Phe) single nucleotide variant Inborn genetic diseases [RCV002792891] Chr11:46542635 [GRCh38]
Chr11:46564185 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1388A>T (p.Tyr463Phe) single nucleotide variant Inborn genetic diseases [RCV002719195] Chr11:46542629 [GRCh38]
Chr11:46564179 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3821A>G (p.Asn1274Ser) single nucleotide variant Inborn genetic diseases [RCV002714345] Chr11:46397526 [GRCh38]
Chr11:46419076 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001387011.1(AMBRA1):c.284G>A (p.Arg95His) single nucleotide variant Inborn genetic diseases [RCV002673030] Chr11:46547207 [GRCh38]
Chr11:46568757 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3574T>G (p.Ser1192Ala) single nucleotide variant Inborn genetic diseases [RCV002940348] Chr11:46397773 [GRCh38]
Chr11:46419323 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1685G>A (p.Arg562His) single nucleotide variant Inborn genetic diseases [RCV002769724] Chr11:46542332 [GRCh38]
Chr11:46563882 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1838G>A (p.Gly613Asp) single nucleotide variant Inborn genetic diseases [RCV002831028] Chr11:46542179 [GRCh38]
Chr11:46563729 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1331C>T (p.Ser444Leu) single nucleotide variant Inborn genetic diseases [RCV002679465] Chr11:46542686 [GRCh38]
Chr11:46564236 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1285C>T (p.Arg429Cys) single nucleotide variant Inborn genetic diseases [RCV002724173] Chr11:46542732 [GRCh38]
Chr11:46564282 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1654C>T (p.His552Tyr) single nucleotide variant AMBRA1-related condition [RCV003418770] Chr11:46542363 [GRCh38]
Chr11:46563913 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1816T>G (p.Phe606Val) single nucleotide variant Inborn genetic diseases [RCV003216133] Chr11:46542201 [GRCh38]
Chr11:46563751 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2317G>A (p.Asp773Asn) single nucleotide variant Inborn genetic diseases [RCV003179583] Chr11:46508213 [GRCh38]
Chr11:46529763 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1151G>A (p.Arg384His) single nucleotide variant Inborn genetic diseases [RCV003199453] Chr11:46542866 [GRCh38]
Chr11:46564416 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.662C>A (p.Ser221Tyr) single nucleotide variant Inborn genetic diseases [RCV003202437] Chr11:46543355 [GRCh38]
Chr11:46564905 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1747C>T (p.Arg583Cys) single nucleotide variant Inborn genetic diseases [RCV003260650] Chr11:46542270 [GRCh38]
Chr11:46563820 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3854G>C (p.Arg1285Thr) single nucleotide variant Inborn genetic diseases [RCV003173817] Chr11:46397493 [GRCh38]
Chr11:46419043 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1823G>C (p.Ser608Thr) single nucleotide variant Inborn genetic diseases [RCV003203638] Chr11:46542194 [GRCh38]
Chr11:46563744 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.1181C>G (p.Ser394Cys) single nucleotide variant Inborn genetic diseases [RCV003286218] Chr11:46542836 [GRCh38]
Chr11:46564386 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.472A>G (p.Asn158Asp) single nucleotide variant Inborn genetic diseases [RCV003361289] Chr11:46545683 [GRCh38]
Chr11:46567233 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3638G>A (p.Gly1213Glu) single nucleotide variant Inborn genetic diseases [RCV003350997] Chr11:46397709 [GRCh38]
Chr11:46419259 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3800C>A (p.Thr1267Asn) single nucleotide variant Inborn genetic diseases [RCV003361836] Chr11:46397547 [GRCh38]
Chr11:46419097 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46556948-46825148)x3 copy number gain not provided [RCV003484840] Chr11:46556948..46825148 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3874A>G (p.Arg1292Gly) single nucleotide variant AMBRA1-related condition [RCV003402075] Chr11:46397473 [GRCh38]
Chr11:46419023 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.3164C>T (p.Thr1055Met) single nucleotide variant AMBRA1-related condition [RCV003422501] Chr11:46410321 [GRCh38]
Chr11:46431871 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2145C>A (p.Tyr715Ter) single nucleotide variant not provided [RCV003395768] Chr11:46512741 [GRCh38]
Chr11:46534291 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001387011.1(AMBRA1):c.2345A>G (p.Asn782Ser) single nucleotide variant AMBRA1-related condition [RCV003904636] Chr11:46494199 [GRCh38]
Chr11:46515749 [GRCh37]
Chr11:11p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4642
Count of miRNA genes:949
Interacting mature miRNAs:1170
Transcripts:ENST00000298834, ENST00000314845, ENST00000426438, ENST00000458649, ENST00000524783, ENST00000526545, ENST00000526606, ENST00000528950, ENST00000529553, ENST00000529558, ENST00000529963, ENST00000531542, ENST00000533727, ENST00000534300
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
G19616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,418,043 - 46,418,151UniSTSGRCh37
Build 361146,374,619 - 46,374,727RGDNCBI36
Celera1146,566,114 - 46,566,222RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,124,778 - 46,124,886UniSTS
A001T07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,418,043 - 46,418,151UniSTSGRCh37
Build 361146,374,619 - 46,374,727RGDNCBI36
Celera1146,566,114 - 46,566,222RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,124,778 - 46,124,886UniSTS
GeneMap99-GB4 RH Map11166.75UniSTS
RH48957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,434,157 - 46,434,313UniSTSGRCh37
Build 361146,390,733 - 46,390,889RGDNCBI36
Celera1146,582,228 - 46,582,384RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,140,848 - 46,141,004UniSTS
GeneMap99-GB4 RH Map11163.76UniSTS
RH28670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,418,134 - 46,418,246UniSTSGRCh37
Build 361146,374,710 - 46,374,822RGDNCBI36
Celera1146,566,205 - 46,566,317RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,124,869 - 46,124,981UniSTS
RH28603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,418,106 - 46,418,184UniSTSGRCh37
Build 361146,374,682 - 46,374,760RGDNCBI36
Celera1146,566,177 - 46,566,255RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,124,841 - 46,124,919UniSTS
SHGC-78672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,422,477 - 46,422,685UniSTSGRCh37
Build 361146,379,053 - 46,379,261RGDNCBI36
Celera1146,570,546 - 46,570,754RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,129,212 - 46,129,420UniSTS
TNG Radiation Hybrid Map1122398.0UniSTS
G62756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,550,474 - 46,550,777UniSTSGRCh37
Build 361146,507,050 - 46,507,353RGDNCBI36
Celera1146,698,464 - 46,698,767RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,256,967 - 46,257,270UniSTS
TNG Radiation Hybrid Map1122460.0UniSTS
D11S1252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,446,790 - 46,446,946UniSTSGRCh37
Build 361146,403,366 - 46,403,522RGDNCBI36
Celera1146,594,859 - 46,595,015RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,153,483 - 46,153,639UniSTS
D11S1271E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,418,150 - 46,418,273UniSTSGRCh37
Build 361146,374,726 - 46,374,849RGDNCBI36
Celera1146,566,221 - 46,566,344RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,124,885 - 46,125,008UniSTS
G30960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,608,098 - 46,608,228UniSTSGRCh37
Build 361146,564,674 - 46,564,804RGDNCBI36
Celera1146,756,142 - 46,756,272RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,314,590 - 46,314,720UniSTS
WI-14603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,417,964 - 46,418,088UniSTSGRCh37
Build 361146,374,540 - 46,374,664RGDNCBI36
Celera1146,566,035 - 46,566,159RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,124,699 - 46,124,823UniSTS
Whitehead-RH Map11192.7UniSTS
NCBI RH Map11376.3UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS


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
High
Medium 1041 1077 1075 131 919 67 3236 490 1662 233 1287 1254 77 538 1962 2
Low 1391 1898 648 491 1026 397 1120 1699 2046 185 162 354 94 666 826 2
Below cutoff 1 9 5 5 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001267782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF589843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA389399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB070055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB232750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ870924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000314845   ⟹   ENSP00000318313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,396,414 - 46,591,364 (-)Ensembl
RefSeq Acc Id: ENST00000458649   ⟹   ENSP00000415327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,396,415 - 46,591,423 (-)Ensembl
RefSeq Acc Id: ENST00000524783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,546,071 - 46,547,420 (-)Ensembl
RefSeq Acc Id: ENST00000526545   ⟹   ENSP00000434895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,397,384 - 46,417,995 (-)Ensembl
RefSeq Acc Id: ENST00000526606   ⟹   ENSP00000431486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,548,309 - 46,594,125 (-)Ensembl
RefSeq Acc Id: ENST00000528950   ⟹   ENSP00000433945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,397,450 - 46,594,045 (-)Ensembl
RefSeq Acc Id: ENST00000529553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,434,849 - 46,493,893 (-)Ensembl
RefSeq Acc Id: ENST00000529558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,504,479 - 46,530,607 (-)Ensembl
RefSeq Acc Id: ENST00000529963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,490,998 - 46,495,511 (-)Ensembl
RefSeq Acc Id: ENST00000531542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,545,701 - 46,593,998 (-)Ensembl
RefSeq Acc Id: ENST00000533727   ⟹   ENSP00000433372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,396,414 - 46,593,948 (-)Ensembl
RefSeq Acc Id: ENST00000534300   ⟹   ENSP00000431926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,396,414 - 46,594,021 (-)Ensembl
RefSeq Acc Id: ENST00000683756   ⟹   ENSP00000508322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,396,414 - 46,594,023 (-)Ensembl
RefSeq Acc Id: NM_001267782   ⟹   NP_001254711
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
GRCh371146,417,962 - 46,615,619 (-)NCBI
HuRef1146,124,697 - 46,322,307 (-)NCBI
CHM1_11146,416,414 - 46,614,031 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001267783   ⟹   NP_001254712
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
GRCh371146,417,962 - 46,615,619 (-)NCBI
HuRef1146,124,697 - 46,322,307 (-)NCBI
CHM1_11146,416,414 - 46,614,031 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001300731   ⟹   NP_001287660
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
CHM1_11146,416,414 - 46,614,031 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367468   ⟹   NP_001354397
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,591,364 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,747,423 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367469   ⟹   NP_001354398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367470   ⟹   NP_001354399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367471   ⟹   NP_001354400
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387011   ⟹   NP_001373940
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,594,023 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,750,082 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017749   ⟹   NP_060219
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,412 - 46,591,364 (-)NCBI
GRCh371146,417,962 - 46,615,619 (-)NCBI
Build 361146,374,541 - 46,569,490 (-)NCBI Archive
Celera1146,566,035 - 46,760,894 (-)RGD
HuRef1146,124,697 - 46,322,307 (-)NCBI
CHM1_11146,416,414 - 46,611,326 (-)NCBI
T2T-CHM13v2.01146,552,487 - 46,747,423 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160027
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,396,414 - 46,587,444 (-)NCBI
T2T-CHM13v2.01146,552,489 - 46,743,503 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001254711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001254712 (Get FASTA)   NCBI Sequence Viewer  
  NP_001287660 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354400 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373940 (Get FASTA)   NCBI Sequence Viewer  
  NP_060219 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH45609 (Get FASTA)   NCBI Sequence Viewer  
  ABI74670 (Get FASTA)   NCBI Sequence Viewer  
  BAA91067 (Get FASTA)   NCBI Sequence Viewer  
  BAB14457 (Get FASTA)   NCBI Sequence Viewer  
  BAB21827 (Get FASTA)   NCBI Sequence Viewer  
  BAG64009 (Get FASTA)   NCBI Sequence Viewer  
  BAG65331 (Get FASTA)   NCBI Sequence Viewer  
  EAW67996 (Get FASTA)   NCBI Sequence Viewer  
  EAW67997 (Get FASTA)   NCBI Sequence Viewer  
  EAW67998 (Get FASTA)   NCBI Sequence Viewer  
  EAW67999 (Get FASTA)   NCBI Sequence Viewer  
  EAW68000 (Get FASTA)   NCBI Sequence Viewer  
  EAW68001 (Get FASTA)   NCBI Sequence Viewer  
  EAW68002 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318313
  ENSP00000318313.3
  ENSP00000415327
  ENSP00000415327.2
  ENSP00000431486.1
  ENSP00000431926
  ENSP00000431926.1
  ENSP00000433372
  ENSP00000433372.1
  ENSP00000433945.1
  ENSP00000434895.1
  ENSP00000508322
  ENSP00000508322.1
GenBank Protein Q9C0C7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060219   ⟸   NM_017749
- Peptide Label: isoform 2
- UniProtKB: B4DZ97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001254712   ⟸   NM_001267783
- Peptide Label: isoform 3
- UniProtKB: A0A075B6T1 (UniProtKB/TrEMBL),   B4DZ97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001254711   ⟸   NM_001267782
- Peptide Label: isoform 1
- UniProtKB: B4DZ97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287660   ⟸   NM_001300731
- Peptide Label: isoform 4
- UniProtKB: B4DZ97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354399   ⟸   NM_001367470
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001354398   ⟸   NM_001367469
- Peptide Label: isoform 6
- UniProtKB: B4DZ97 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354400   ⟸   NM_001367471
- Peptide Label: isoform 2
- UniProtKB: B4DZ97 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354397   ⟸   NM_001367468
- Peptide Label: isoform 5
- UniProtKB: Q9H8Z0 (UniProtKB/Swiss-Prot),   Q9C0C7 (UniProtKB/Swiss-Prot),   Q86XD6 (UniProtKB/Swiss-Prot),   G3V193 (UniProtKB/Swiss-Prot),   D3DQP8 (UniProtKB/Swiss-Prot),   A6XN33 (UniProtKB/Swiss-Prot),   Q9NXE7 (UniProtKB/Swiss-Prot),   B4DZ97 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000433372   ⟸   ENST00000533727
RefSeq Acc Id: ENSP00000431926   ⟸   ENST00000534300
RefSeq Acc Id: ENSP00000415327   ⟸   ENST00000458649
RefSeq Acc Id: ENSP00000318313   ⟸   ENST00000314845
RefSeq Acc Id: ENSP00000431486   ⟸   ENST00000526606
RefSeq Acc Id: ENSP00000434895   ⟸   ENST00000526545
RefSeq Acc Id: ENSP00000433945   ⟸   ENST00000528950
RefSeq Acc Id: NP_001373940   ⟸   NM_001387011
- Peptide Label: isoform 5
- UniProtKB: Q9H8Z0 (UniProtKB/Swiss-Prot),   Q9C0C7 (UniProtKB/Swiss-Prot),   Q86XD6 (UniProtKB/Swiss-Prot),   G3V193 (UniProtKB/Swiss-Prot),   D3DQP8 (UniProtKB/Swiss-Prot),   A6XN33 (UniProtKB/Swiss-Prot),   Q9NXE7 (UniProtKB/Swiss-Prot),   B4DZ97 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000508322   ⟸   ENST00000683756

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0C7-F1-model_v2 AlphaFold Q9C0C7 1-1298 view protein structure

Promoters
RGD ID:6814952
Promoter ID:HG_MRA:2660
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK023197
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,520,151 - 46,520,651 (-)MPROMDB
RGD ID:6788762
Promoter ID:HG_KWN:12765
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000314823,   UC001NCV.1,   UC001NCW.1,   UC001NCX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,571,896 - 46,572,396 (-)MPROMDB
RGD ID:7220185
Promoter ID:EPDNEW_H15838
Type:initiation region
Name:AMBRA1_1
Description:autophagy and beclin 1 regulator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,594,017 - 46,594,077EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25990 AgrOrtholog
COSMIC AMBRA1 COSMIC
Ensembl Genes ENSG00000110497 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314845 ENTREZGENE
  ENST00000314845.7 UniProtKB/Swiss-Prot
  ENST00000458649 ENTREZGENE
  ENST00000458649.6 UniProtKB/Swiss-Prot
  ENST00000526545.5 UniProtKB/TrEMBL
  ENST00000526606.1 UniProtKB/TrEMBL
  ENST00000528950.1 UniProtKB/Swiss-Prot
  ENST00000533727 ENTREZGENE
  ENST00000533727.5 UniProtKB/TrEMBL
  ENST00000534300 ENTREZGENE
  ENST00000534300.5 UniProtKB/Swiss-Prot
  ENST00000683756 ENTREZGENE
  ENST00000683756.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110497 GTEx
HGNC ID HGNC:25990 ENTREZGENE
Human Proteome Map AMBRA1 Human Proteome Map
InterPro WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55626 UniProtKB/Swiss-Prot
NCBI Gene 55626 ENTREZGENE
OMIM 611359 OMIM
PANTHER ACTIVATING MOLECULE IN BECN1-REGULATED AUTOPHAGY PROTEIN 1 UniProtKB/Swiss-Prot
  ACTIVATING MOLECULE IN BECN1-REGULATED AUTOPHAGY PROTEIN 1 UniProtKB/Swiss-Prot
  ACTIVATING MOLECULE IN BECN1-REGULATED AUTOPHAGY PROTEIN 1 UniProtKB/TrEMBL
  ACTIVATING MOLECULE IN BECN1-REGULATED AUTOPHAGY PROTEIN 1 UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162376307 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6T1 ENTREZGENE, UniProtKB/TrEMBL
  A6XN33 ENTREZGENE
  AMRA1_HUMAN UniProtKB/Swiss-Prot
  B4DZ97 ENTREZGENE, UniProtKB/TrEMBL
  D3DQP8 ENTREZGENE
  E9PL55_HUMAN UniProtKB/TrEMBL
  G3V193 ENTREZGENE
  H0YE34_HUMAN UniProtKB/TrEMBL
  Q86XD6 ENTREZGENE
  Q9C0C7 ENTREZGENE
  Q9H8Z0 ENTREZGENE
  Q9NXE7 ENTREZGENE
UniProt Secondary A6XN33 UniProtKB/Swiss-Prot
  D3DQP8 UniProtKB/Swiss-Prot
  G3V193 UniProtKB/Swiss-Prot
  Q86XD6 UniProtKB/Swiss-Prot
  Q9H8Z0 UniProtKB/Swiss-Prot
  Q9NXE7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 AMBRA1  autophagy and beclin 1 regulator 1    autophagy/beclin-1 regulator 1  Symbol and/or name change 5135510 APPROVED