PLEKHA6 (pleckstrin homology domain containing A6) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PLEKHA6 (pleckstrin homology domain containing A6) Homo sapiens
Analyze
Symbol: PLEKHA6
Name: pleckstrin homology domain containing A6
RGD ID: 1353676
HGNC Page HGNC:17053
Description: ASSOCIATED WITH Autism; autistic disorder; familial adult myoclonic epilepsy 5; INTERACTS WITH 17beta-estradiol; 2,2',5,5'-tetrachlorobiphenyl; 3-methylcholanthrene
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0969; MGC176733; PEPP-3; PEPP3; PH domain-containing family A member 6; phosphoinositol 3-phosphate-binding protein 3; phosphoinositol 3-phosphate-binding protein-3; pleckstrin homology domain containing, family A member 6; pleckstrin homology domain-containing family A member 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381204,218,853 - 204,378,168 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1204,218,853 - 204,378,214 (-)EnsemblGRCh38hg38GRCh38
GRCh371204,187,981 - 204,329,057 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361202,454,604 - 202,595,667 (-)NCBINCBI36Build 36hg18NCBI36
Build 341200,919,638 - 201,060,701NCBI
Celera1177,323,436 - 177,464,478 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1175,352,932 - 175,494,004 (-)NCBIHuRef
CHM1_11205,611,887 - 205,752,926 (-)NCBICHM1_1
T2T-CHM13v2.01203,483,437 - 203,642,952 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-methylcholanthrene  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (EXP,ISO)
diuron  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
lithium chloride  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
monoethyl phthalate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
propanal  (EXP)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thimerosal  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Dowler S, etal., Biochem J 2000 Oct 1;351(Pt 1):19-31.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10231032   PMID:10737800   PMID:12477932   PMID:14702039   PMID:15203218   PMID:15951569   PMID:16341674   PMID:16964243   PMID:17110338   PMID:17452356   PMID:17456239   PMID:19536175  
PMID:20379614   PMID:20936779   PMID:21163940   PMID:23362303   PMID:23535732   PMID:24576533   PMID:25468996   PMID:25921289   PMID:26186194   PMID:26673895   PMID:26760575   PMID:27684187  
PMID:28514442   PMID:29117863   PMID:29509190   PMID:30572598   PMID:30639242   PMID:31091453   PMID:31586073   PMID:32041737   PMID:32296183   PMID:33961781   PMID:34079125   PMID:34349018  
PMID:34613798   PMID:35013218   PMID:35337019   PMID:36976175   PMID:38113892  


Genomics

Comparative Map Data
PLEKHA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381204,218,853 - 204,378,168 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1204,218,853 - 204,378,214 (-)EnsemblGRCh38hg38GRCh38
GRCh371204,187,981 - 204,329,057 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361202,454,604 - 202,595,667 (-)NCBINCBI36Build 36hg18NCBI36
Build 341200,919,638 - 201,060,701NCBI
Celera1177,323,436 - 177,464,478 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1175,352,932 - 175,494,004 (-)NCBIHuRef
CHM1_11205,611,887 - 205,752,926 (-)NCBICHM1_1
T2T-CHM13v2.01203,483,437 - 203,642,952 (-)NCBIT2T-CHM13v2.0
Plekha6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391133,089,770 - 133,231,173 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1133,091,948 - 133,231,173 (+)EnsemblGRCm39 Ensembl
GRCm381133,162,032 - 133,303,435 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1133,164,210 - 133,303,435 (+)EnsemblGRCm38mm10GRCm38
MGSCv371135,142,674 - 135,200,012 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361135,073,652 - 135,129,195 (+)NCBIMGSCv36mm8
Celera1135,858,572 - 135,915,993 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map157.91NCBI
Plekha6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81347,166,899 - 47,307,003 (+)NCBIGRCr8
mRatBN7.21344,614,740 - 44,754,951 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1344,615,011 - 44,754,673 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01350,555,454 - 50,582,236 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1350,555,454 - 50,578,720 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01355,608,313 - 55,635,944 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01355,038,342 - 55,151,469 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41346,078,783 - 46,214,550 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1344,948,394 - 45,087,856 (+)NCBICelera
Cytogenetic Map13q13NCBI
Plekha6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540640,066,206 - 40,134,597 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540640,066,260 - 40,200,629 (-)NCBIChiLan1.0ChiLan1.0
PLEKHA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2144,998,411 - 45,156,233 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1144,963,871 - 45,121,490 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01179,821,249 - 179,980,149 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11184,109,553 - 184,268,475 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,109,553 - 184,164,492 (-)Ensemblpanpan1.1panPan2
PLEKHA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.138795,368 - 851,823 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl38799,918 - 838,835 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha38890,782 - 1,030,906 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.038790,756 - 911,549 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl38790,758 - 932,400 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.138787,199 - 908,048 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0381,178,604 - 1,299,615 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0381,378,805 - 1,519,290 (-)NCBIUU_Cfam_GSD_1.0
Plekha6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934471,192,620 - 71,329,810 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936567515,854 - 564,448 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936567430,383 - 564,429 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLEKHA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl964,874,046 - 65,003,248 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1964,876,803 - 65,027,455 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2971,197,101 - 71,363,068 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLEKHA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12524,973,035 - 25,130,439 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2525,000,340 - 25,130,573 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605525,733,394 - 25,891,098 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plekha6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248076,712,883 - 6,784,620 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248076,653,383 - 6,784,287 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLEKHA6
150 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
NM_014935.4(PLEKHA6):c.2402C>T (p.Ser801Phe) single nucleotide variant Malignant melanoma [RCV000064472] Chr1:204241382 [GRCh38]
Chr1:204210510 [GRCh37]
Chr1:202477133 [NCBI36]
Chr1:1q32.1		 not provided
NM_014935.4(PLEKHA6):c.857C>T (p.Pro286Leu) single nucleotide variant Malignant melanoma [RCV000064473] Chr1:204259408 [GRCh38]
Chr1:204228536 [GRCh37]
Chr1:202495159 [NCBI36]
Chr1:1q32.1		 not provided
NM_014935.4(PLEKHA6):c.2584-97C>G single nucleotide variant Lung cancer [RCV000090373] Chr1:204229201 [GRCh38]
Chr1:204198329 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.4(PLEKHA6):c.-94-35993C>A single nucleotide variant Lung cancer [RCV000090374] Chr1:204310802 [GRCh38]
Chr1:204279930 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_014935.5(PLEKHA6):c.806C>T (p.Pro269Leu) single nucleotide variant not specified [RCV004289547] Chr1:204259459 [GRCh38]
Chr1:204228587 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_014935.5(PLEKHA6):c.979G>A (p.Gly327Arg) single nucleotide variant not specified [RCV004319791] Chr1:204259286 [GRCh38]
Chr1:204228414 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.917A>G (p.Asp306Gly) single nucleotide variant not specified [RCV004302260] Chr1:204259348 [GRCh38]
Chr1:204228476 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_014935.5(PLEKHA6):c.2597G>A (p.Arg866His) single nucleotide variant not specified [RCV004283781] Chr1:204229091 [GRCh38]
Chr1:204198219 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2798T>G (p.Leu933Arg) single nucleotide variant not specified [RCV004300502] Chr1:204228815 [GRCh38]
Chr1:204197943 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2243T>A (p.Ile748Asn) single nucleotide variant not specified [RCV004290779] Chr1:204241744 [GRCh38]
Chr1:204210872 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1460G>A (p.Arg487His) single nucleotide variant not specified [RCV004205684] Chr1:204257417 [GRCh38]
Chr1:204226545 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_014935.5(PLEKHA6):c.260G>T (p.Arg87Leu) single nucleotide variant not specified [RCV004327152] Chr1:204267495 [GRCh38]
Chr1:204236623 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1294G>T (p.Val432Phe) single nucleotide variant not specified [RCV004126554] Chr1:204257583 [GRCh38]
Chr1:204226711 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.100C>T (p.Arg34Trp) single nucleotide variant not specified [RCV004209357] Chr1:204273628 [GRCh38]
Chr1:204242756 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_014935.5(PLEKHA6):c.565C>G (p.His189Asp) single nucleotide variant not specified [RCV004219271] Chr1:204259700 [GRCh38]
Chr1:204228828 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2716G>C (p.Glu906Gln) single nucleotide variant not specified [RCV004119387] Chr1:204228972 [GRCh38]
Chr1:204198100 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.173C>T (p.Ala58Val) single nucleotide variant not specified [RCV004170226] Chr1:204268242 [GRCh38]
Chr1:204237370 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3116G>A (p.Gly1039Asp) single nucleotide variant not specified [RCV004113803] Chr1:204223501 [GRCh38]
Chr1:204192629 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2785C>T (p.Arg929Trp) single nucleotide variant not specified [RCV004215191] Chr1:204228828 [GRCh38]
Chr1:204197956 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2485C>T (p.Arg829Trp) single nucleotide variant not specified [RCV004156182] Chr1:204230511 [GRCh38]
Chr1:204199639 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1823C>T (p.Thr608Met) single nucleotide variant not specified [RCV004157047] Chr1:204248822 [GRCh38]
Chr1:204217950 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1825G>A (p.Ala609Thr) single nucleotide variant not specified [RCV004157223] Chr1:204247460 [GRCh38]
Chr1:204216588 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2695C>T (p.Arg899Trp) single nucleotide variant not specified [RCV004213911] Chr1:204228993 [GRCh38]
Chr1:204198121 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1202G>T (p.Gly401Val) single nucleotide variant not specified [RCV004205253] Chr1:204257675 [GRCh38]
Chr1:204226803 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1372C>T (p.Arg458Cys) single nucleotide variant not specified [RCV004120371] Chr1:204257505 [GRCh38]
Chr1:204226633 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2518C>T (p.Arg840Trp) single nucleotide variant not specified [RCV004234264] Chr1:204230478 [GRCh38]
Chr1:204199606 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1318G>A (p.Ala440Thr) single nucleotide variant not specified [RCV004139436] Chr1:204257559 [GRCh38]
Chr1:204226687 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2519G>A (p.Arg840Gln) single nucleotide variant not specified [RCV004196811] Chr1:204230477 [GRCh38]
Chr1:204199605 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3134C>A (p.Thr1045Asn) single nucleotide variant not specified [RCV004081044] Chr1:204223483 [GRCh38]
Chr1:204192611 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1198G>A (p.Gly400Ser) single nucleotide variant not specified [RCV004236653] Chr1:204257679 [GRCh38]
Chr1:204226807 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2312T>C (p.Val771Ala) single nucleotide variant not specified [RCV004096700] Chr1:204241472 [GRCh38]
Chr1:204210600 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1433G>C (p.Ser478Thr) single nucleotide variant not specified [RCV004091578] Chr1:204257444 [GRCh38]
Chr1:204226572 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1456C>T (p.Pro486Ser) single nucleotide variant not specified [RCV004229036] Chr1:204257421 [GRCh38]
Chr1:204226549 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1937G>A (p.Arg646Gln) single nucleotide variant not specified [RCV004206278] Chr1:204245710 [GRCh38]
Chr1:204214838 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.827C>T (p.Ser276Phe) single nucleotide variant not specified [RCV004095801] Chr1:204259438 [GRCh38]
Chr1:204228566 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1088A>G (p.Gln363Arg) single nucleotide variant not specified [RCV004230321] Chr1:204257789 [GRCh38]
Chr1:204226917 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.863A>C (p.Gln288Pro) single nucleotide variant not specified [RCV004194076] Chr1:204259402 [GRCh38]
Chr1:204228530 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3022A>C (p.Met1008Leu) single nucleotide variant not specified [RCV004194146] Chr1:204228092 [GRCh38]
Chr1:204197220 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.265C>G (p.Leu89Val) single nucleotide variant not specified [RCV004243687] Chr1:204267490 [GRCh38]
Chr1:204236618 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.746C>T (p.Pro249Leu) single nucleotide variant not specified [RCV004218742] Chr1:204259519 [GRCh38]
Chr1:204228647 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1513A>G (p.Ser505Gly) single nucleotide variant not specified [RCV004094700] Chr1:204257364 [GRCh38]
Chr1:204226492 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.374C>T (p.Thr125Met) single nucleotide variant not specified [RCV004167391] Chr1:204264949 [GRCh38]
Chr1:204234077 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2696G>A (p.Arg899Gln) single nucleotide variant not specified [RCV004074757] Chr1:204228992 [GRCh38]
Chr1:204198120 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2384G>A (p.Gly795Glu) single nucleotide variant not specified [RCV004245307] Chr1:204241400 [GRCh38]
Chr1:204210528 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2798T>C (p.Leu933Pro) single nucleotide variant not specified [RCV004107711] Chr1:204228815 [GRCh38]
Chr1:204197943 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1832C>G (p.Thr611Arg) single nucleotide variant not specified [RCV004231104] Chr1:204247453 [GRCh38]
Chr1:204216581 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2117C>T (p.Pro706Leu) single nucleotide variant not specified [RCV004217585] Chr1:204244919 [GRCh38]
Chr1:204214047 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1645C>T (p.Arg549Trp) single nucleotide variant not specified [RCV004214448] Chr1:204249213 [GRCh38]
Chr1:204218341 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2005C>T (p.Arg669Trp) single nucleotide variant not specified [RCV004183585] Chr1:204245642 [GRCh38]
Chr1:204214770 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1664G>A (p.Arg555Gln) single nucleotide variant not specified [RCV004186902] Chr1:204249194 [GRCh38]
Chr1:204218322 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.793C>G (p.Gln265Glu) single nucleotide variant not specified [RCV004215795] Chr1:204259472 [GRCh38]
Chr1:204228600 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.103G>A (p.Ala35Thr) single nucleotide variant not specified [RCV004092232] Chr1:204268312 [GRCh38]
Chr1:204237440 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1003C>T (p.Arg335Trp) single nucleotide variant not specified [RCV004091426] Chr1:204259262 [GRCh38]
Chr1:204228390 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2659G>A (p.Gly887Arg) single nucleotide variant not specified [RCV004117928] Chr1:204229029 [GRCh38]
Chr1:204198157 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1325G>A (p.Ser442Asn) single nucleotide variant not specified [RCV004121181] Chr1:204257552 [GRCh38]
Chr1:204226680 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2567G>A (p.Arg856Gln) single nucleotide variant not specified [RCV004085088] Chr1:204230429 [GRCh38]
Chr1:204199557 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2018C>T (p.Thr673Ile) single nucleotide variant not specified [RCV004274189] Chr1:204245629 [GRCh38]
Chr1:204214757 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1133C>T (p.Pro378Leu) single nucleotide variant not specified [RCV004264297] Chr1:204257744 [GRCh38]
Chr1:204226872 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.259C>T (p.Arg87Cys) single nucleotide variant not specified [RCV004255366] Chr1:204267496 [GRCh38]
Chr1:204236624 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2170G>A (p.Glu724Lys) single nucleotide variant not specified [RCV004257019] Chr1:204244866 [GRCh38]
Chr1:204213994 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.835C>T (p.Arg279Trp) single nucleotide variant not specified [RCV004322049] Chr1:204259430 [GRCh38]
Chr1:204228558 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1738G>A (p.Ala580Thr) single nucleotide variant not specified [RCV004259488] Chr1:204248907 [GRCh38]
Chr1:204218035 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2906T>C (p.Ile969Thr) single nucleotide variant not specified [RCV004252011] Chr1:204228208 [GRCh38]
Chr1:204197336 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.175C>A (p.Pro59Thr) single nucleotide variant not specified [RCV004253795] Chr1:204268240 [GRCh38]
Chr1:204237368 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1459C>T (p.Arg487Cys) single nucleotide variant not specified [RCV004318998] Chr1:204257418 [GRCh38]
Chr1:204226546 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.364C>T (p.Arg122Trp) single nucleotide variant not specified [RCV004302127] Chr1:204264959 [GRCh38]
Chr1:204234087 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1249C>T (p.Arg417Trp) single nucleotide variant not specified [RCV004338899] Chr1:204257628 [GRCh38]
Chr1:204226756 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2929G>A (p.Val977Met) single nucleotide variant not specified [RCV004342295] Chr1:204228185 [GRCh38]
Chr1:204197313 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2018C>A (p.Thr673Asn) single nucleotide variant not specified [RCV004355146] Chr1:204245629 [GRCh38]
Chr1:204214757 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2308G>A (p.Val770Ile) single nucleotide variant not specified [RCV004345735] Chr1:204241476 [GRCh38]
Chr1:204210604 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014935.5(PLEKHA6):c.2756C>T (p.Ser919Phe) single nucleotide variant not specified [RCV004361947] Chr1:204228857 [GRCh38]
Chr1:204197985 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1334G>A (p.Arg445His) single nucleotide variant not specified [RCV004356840] Chr1:204257543 [GRCh38]
Chr1:204226671 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.461G>A (p.Gly154Glu) single nucleotide variant not specified [RCV004354611] Chr1:204261369 [GRCh38]
Chr1:204230497 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3086C>T (p.Ala1029Val) single nucleotide variant not provided [RCV003414698] Chr1:204223531 [GRCh38]
Chr1:204192659 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 copy number gain not specified [RCV003986684] Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_014935.5(PLEKHA6):c.1337G>A (p.Arg446His) single nucleotide variant not specified [RCV004514148] Chr1:204257540 [GRCh38]
Chr1:204226668 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.188C>T (p.Ala63Val) single nucleotide variant not specified [RCV004514151] Chr1:204268227 [GRCh38]
Chr1:204237355 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2006G>A (p.Arg669Gln) single nucleotide variant not specified [RCV004514155] Chr1:204245641 [GRCh38]
Chr1:204214769 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2563C>G (p.Pro855Ala) single nucleotide variant not specified [RCV004514158] Chr1:204230433 [GRCh38]
Chr1:204199561 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014935.5(PLEKHA6):c.703A>G (p.Lys235Glu) single nucleotide variant not specified [RCV004514165] Chr1:204259562 [GRCh38]
Chr1:204228690 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.760C>T (p.Pro254Ser) single nucleotide variant not specified [RCV004514166] Chr1:204259505 [GRCh38]
Chr1:204228633 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.890G>A (p.Arg297Gln) single nucleotide variant not specified [RCV004514168] Chr1:204259375 [GRCh38]
Chr1:204228503 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.976C>T (p.Arg326Trp) single nucleotide variant not specified [RCV004514169] Chr1:204259289 [GRCh38]
Chr1:204228417 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2681G>A (p.Arg894Gln) single nucleotide variant not specified [RCV004514161] Chr1:204229007 [GRCh38]
Chr1:204198135 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.104C>A (p.Ala35Glu) single nucleotide variant not specified [RCV004514143] Chr1:204268311 [GRCh38]
Chr1:204237439 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1189C>T (p.Arg397Cys) single nucleotide variant not specified [RCV004514146] Chr1:204257688 [GRCh38]
Chr1:204226816 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1423C>T (p.Arg475Cys) single nucleotide variant not specified [RCV004514149] Chr1:204257454 [GRCh38]
Chr1:204226582 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2343T>A (p.Asp781Glu) single nucleotide variant not specified [RCV004514157] Chr1:204241441 [GRCh38]
Chr1:204210569 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014935.5(PLEKHA6):c.2588G>A (p.Arg863His) single nucleotide variant not specified [RCV004514159] Chr1:204229100 [GRCh38]
Chr1:204198228 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1237G>C (p.Ala413Pro) single nucleotide variant not specified [RCV004514147] Chr1:204257640 [GRCh38]
Chr1:204226768 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1916C>T (p.Thr639Ile) single nucleotide variant not specified [RCV004514152] Chr1:204247369 [GRCh38]
Chr1:204216497 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014935.5(PLEKHA6):c.109C>T (p.Arg37Cys) single nucleotide variant not specified [RCV004514144] Chr1:204268306 [GRCh38]
Chr1:204237434 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1154C>T (p.Pro385Leu) single nucleotide variant not specified [RCV004514145] Chr1:204257723 [GRCh38]
Chr1:204226851 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2989G>A (p.Ala997Thr) single nucleotide variant not specified [RCV004514162] Chr1:204228125 [GRCh38]
Chr1:204197253 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.580C>A (p.Pro194Thr) single nucleotide variant not specified [RCV004514164] Chr1:204259685 [GRCh38]
Chr1:204228813 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.175C>T (p.Pro59Ser) single nucleotide variant not specified [RCV004514150] Chr1:204268240 [GRCh38]
Chr1:204237368 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2663A>G (p.His888Arg) single nucleotide variant not specified [RCV004514160] Chr1:204229025 [GRCh38]
Chr1:204198153 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1960A>G (p.Arg654Gly) single nucleotide variant not specified [RCV004514154] Chr1:204245687 [GRCh38]
Chr1:204214815 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NM_014935.5(PLEKHA6):c.689A>T (p.Lys230Ile) single nucleotide variant not specified [RCV004662099] Chr1:204259576 [GRCh38]
Chr1:204228704 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3140G>A (p.Arg1047Gln) single nucleotide variant not specified [RCV004662096] Chr1:204223477 [GRCh38]
Chr1:204192605 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1885G>A (p.Asp629Asn) single nucleotide variant not specified [RCV004662095] Chr1:204247400 [GRCh38]
Chr1:204216528 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1936C>T (p.Arg646Trp) single nucleotide variant not specified [RCV004651237] Chr1:204245711 [GRCh38]
Chr1:204214839 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1549C>T (p.Arg517Trp) single nucleotide variant not specified [RCV004651238] Chr1:204250590 [GRCh38]
Chr1:204219718 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1576A>C (p.Asn526His) single nucleotide variant not specified [RCV004662100] Chr1:204250563 [GRCh38]
Chr1:204219691 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1250G>A (p.Arg417Gln) single nucleotide variant not specified [RCV004651234] Chr1:204257627 [GRCh38]
Chr1:204226755 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1351C>G (p.Pro451Ala) single nucleotide variant not specified [RCV004651235] Chr1:204257526 [GRCh38]
Chr1:204226654 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.845G>T (p.Ser282Ile) single nucleotide variant not specified [RCV004651239] Chr1:204259420 [GRCh38]
Chr1:204228548 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.154A>G (p.Met52Val) single nucleotide variant not specified [RCV004651240] Chr1:204268261 [GRCh38]
Chr1:204237389 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2851G>T (p.Val951Leu) single nucleotide variant not specified [RCV004651241] Chr1:204228762 [GRCh38]
Chr1:204197890 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.40A>T (p.Asn14Tyr) single nucleotide variant not specified [RCV004662094] Chr1:204273688 [GRCh38]
Chr1:204242816 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3136A>G (p.Met1046Val) single nucleotide variant not specified [RCV004662098] Chr1:204223481 [GRCh38]
Chr1:204192609 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1333C>T (p.Arg445Cys) single nucleotide variant not specified [RCV004662093] Chr1:204257544 [GRCh38]
Chr1:204226672 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.566A>C (p.His189Pro) single nucleotide variant not specified [RCV004662097] Chr1:204259699 [GRCh38]
Chr1:204228827 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.238C>T (p.Arg80Cys) single nucleotide variant not specified [RCV004842699] Chr1:204267517 [GRCh38]
Chr1:204236645 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3064C>T (p.Pro1022Ser) single nucleotide variant not specified [RCV004842701] Chr1:204223553 [GRCh38]
Chr1:204192681 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.3010C>T (p.Arg1004Cys) single nucleotide variant not specified [RCV004842691] Chr1:204228104 [GRCh38]
Chr1:204197232 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1123T>C (p.Cys375Arg) single nucleotide variant not specified [RCV004842692] Chr1:204257754 [GRCh38]
Chr1:204226882 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2996C>A (p.Ala999Glu) single nucleotide variant not specified [RCV004842696] Chr1:204228118 [GRCh38]
Chr1:204197246 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.782G>A (p.Gly261Glu) single nucleotide variant not specified [RCV004842698] Chr1:204259483 [GRCh38]
Chr1:204228611 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.836G>A (p.Arg279Gln) single nucleotide variant not specified [RCV004842704] Chr1:204259429 [GRCh38]
Chr1:204228557 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1571A>G (p.Lys524Arg) single nucleotide variant not specified [RCV004842697] Chr1:204250568 [GRCh38]
Chr1:204219696 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.934A>G (p.Lys312Glu) single nucleotide variant not specified [RCV004842689] Chr1:204259331 [GRCh38]
Chr1:204228459 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2631G>C (p.Glu877Asp) single nucleotide variant not specified [RCV004842700] Chr1:204229057 [GRCh38]
Chr1:204198185 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2533C>A (p.Leu845Ile) single nucleotide variant not specified [RCV004842686] Chr1:204230463 [GRCh38]
Chr1:204199591 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2423G>C (p.Ser808Thr) single nucleotide variant not specified [RCV004842693] Chr1:204230573 [GRCh38]
Chr1:204199701 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1139A>G (p.Tyr380Cys) single nucleotide variant not specified [RCV004842694] Chr1:204257738 [GRCh38]
Chr1:204226866 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.982G>A (p.Val328Ile) single nucleotide variant not specified [RCV004842706] Chr1:204259283 [GRCh38]
Chr1:204228411 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2486G>A (p.Arg829Gln) single nucleotide variant not specified [RCV004842695] Chr1:204230510 [GRCh38]
Chr1:204199638 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.2167A>G (p.Asn723Asp) single nucleotide variant not specified [RCV004842702] Chr1:204244869 [GRCh38]
Chr1:204213997 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.1957T>G (p.Trp653Gly) single nucleotide variant not specified [RCV004842688] Chr1:204245690 [GRCh38]
Chr1:204214818 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.997G>T (p.Asp333Tyr) single nucleotide variant not specified [RCV004842705] Chr1:204259268 [GRCh38]
Chr1:204228396 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.89G>A (p.Arg30Gln) single nucleotide variant not specified [RCV004842690] Chr1:204273639 [GRCh38]
Chr1:204242767 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014935.5(PLEKHA6):c.586A>G (p.Asn196Asp) single nucleotide variant not specified [RCV004850626] Chr1:204259679 [GRCh38]
Chr1:204228807 [GRCh37]
Chr1:1q32.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3282
Count of miRNA genes:1051
Interacting mature miRNAs:1292
Transcripts:ENST00000272203, ENST00000414478, ENST00000485632, ENST00000564627
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597249625GWAS1345699_Hcomplement factor H-related protein 3 measurement QTL GWAS1345699 (human)0.000007complement factor H-related protein 3 measurement1204263745204263746Human
596952534GWAS1072053_Hage of onset of Parkinson disease, smoking behaviour measurement QTL GWAS1072053 (human)0.000005age of onset of Parkinson disease, smoking behaviour measurement1204263844204263845Human
597617303GWAS1674163_Hplatelet count QTL GWAS1674163 (human)1e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)1204294919204294920Human
597051740GWAS1147814_Hhematocrit QTL GWAS1147814 (human)3e-11hematocrithematocrit (CMO:0000037)1204285634204285635Human
597600914GWAS1657774_Hblood urea nitrogen measurement QTL GWAS1657774 (human)1e-17blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)1204285667204285668Human
406985676GWAS634652_Hhemoglobin measurement QTL GWAS634652 (human)6e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)1204251104204251105Human
597125575GWAS1221649_Hpapillary renal cell carcinoma QTL GWAS1221649 (human)9e-17papillary renal cell carcinoma1204285634204285635Human
597112838GWAS1208912_Hplatelet count QTL GWAS1208912 (human)2e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)1204269275204269276Human
406980950GWAS629926_Hhematocrit QTL GWAS629926 (human)4e-12hematocrithematocrit (CMO:0000037)1204251104204251105Human
597311110GWAS1407184_Hvaginal microbiome measurement QTL GWAS1407184 (human)4e-08vaginal microbiome measurement1204219331204219332Human
597103050GWAS1199124_Hplatelet crit QTL GWAS1199124 (human)2e-25platelet quantity (VT:0003179)plateletcrit (CMO:0001349)1204336981204336982Human
407061661GWAS710637_Hglutamine measurement QTL GWAS710637 (human)0.000008glutamine measurementblood amino acid measurement (CMO:0003730)1204222256204222257Human
407022108GWAS671084_Hplatelet count QTL GWAS671084 (human)2e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)1204314447204314448Human
597083383GWAS1179457_Hmonocyte count QTL GWAS1179457 (human)2e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1204297621204297622Human
597181627GWAS1277701_Hrenin measurement QTL GWAS1277701 (human)4e-34renin activity (VT:0005581)1204237969204237970Human
407027745GWAS676721_Hfatty acid measurement QTL GWAS676721 (human)0.000003fatty acid measurement1204305391204305392Human
597286524GWAS1382598_Hblood urea nitrogen measurement QTL GWAS1382598 (human)6e-10blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)1204261453204261454Human
597312124GWAS1408198_Hvaginal microbiome measurement QTL GWAS1408198 (human)0.000004vaginal microbiome measurement1204219331204219332Human
597342717GWAS1438791_Hserum alanine aminotransferase measurement QTL GWAS1438791 (human)4e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)1204244586204244587Human
597600886GWAS1657746_Hblood urea nitrogen measurement QTL GWAS1657746 (human)1e-13blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)1204285667204285668Human
597110590GWAS1206664_Herythrocyte count QTL GWAS1206664 (human)4e-10erythrocyte countred blood cell count (CMO:0000025)1204261453204261454Human
597312304GWAS1408378_Huric acid measurement QTL GWAS1408378 (human)1e-09uric acid measurementblood uric acid level (CMO:0000501)1204351890204351891Human
597044285GWAS1140359_Herythrocyte count QTL GWAS1140359 (human)6e-10erythrocyte countred blood cell count (CMO:0000025)1204285634204285635Human
597517747GWAS1613821_Hserum gamma-glutamyl transferase measurement QTL GWAS1613821 (human)1e-08serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)1204262036204262037Human
597611888GWAS1668748_Hplatelet count QTL GWAS1668748 (human)4e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)1204294919204294920Human
597589359GWAS1646219_Hmonocyte count QTL GWAS1646219 (human)1e-11monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1204295414204295415Human
597078631GWAS1174705_Hplatelet count QTL GWAS1174705 (human)3e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)1204332694204332695Human
597601133GWAS1657993_Hblood urea nitrogen measurement QTL GWAS1657993 (human)1e-12blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)1204285634204285635Human
597594026GWAS1650886_Hblood urea nitrogen measurement QTL GWAS1650886 (human)9e-16blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)1204285634204285635Human
597309999GWAS1406073_Hvaginal microbiome measurement QTL GWAS1406073 (human)0.0000001vaginal microbiome measurement1204219331204219332Human
597214113GWAS1310187_Helectrocardiography QTL GWAS1310187 (human)3e-08electrocardiography1204348027204348028Human
407306557GWAS955533_Hlymphocyte count QTL GWAS955533 (human)1e-19lymphocyte countblood lymphocyte count (CMO:0000031)1204300057204300058Human
597214114GWAS1310188_Helectrocardiography QTL GWAS1310188 (human)2e-08electrocardiography1204348027204348028Human
597214115GWAS1310189_Helectrocardiography QTL GWAS1310189 (human)1e-08electrocardiography1204348027204348028Human
597615330GWAS1672190_Hplatelet count QTL GWAS1672190 (human)3e-22platelet quantity (VT:0003179)platelet count (CMO:0000029)1204294919204294920Human
597214116GWAS1310190_Helectrocardiography QTL GWAS1310190 (human)9e-09electrocardiography1204348027204348028Human
597452963GWAS1549037_Hdiastolic blood pressure QTL GWAS1549037 (human)2e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)1204350779204350780Human

Markers in Region
WI-11131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,188,043 - 204,188,220UniSTSGRCh37
Build 361202,454,666 - 202,454,843RGDNCBI36
Celera1177,323,498 - 177,323,675RGD
Cytogenetic Map1q32.1UniSTS
GeneMap99-GB4 RH Map1673.73UniSTS
Whitehead-RH Map1829.9UniSTS
SHGC-76183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,223,705 - 204,223,867UniSTSGRCh37
Build 361202,490,328 - 202,490,490RGDNCBI36
Celera1177,359,144 - 177,359,306RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,388,676 - 175,388,838UniSTS
TNG Radiation Hybrid Map153767.0UniSTS
GeneMap99-GB4 RH Map1673.73UniSTS
AL033822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,302,798 - 204,302,979UniSTSGRCh37
Build 361202,569,421 - 202,569,602RGDNCBI36
Celera1177,438,233 - 177,438,414RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,467,748 - 175,467,929UniSTS
SHGC-147188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,313,118 - 204,313,441UniSTSGRCh37
Build 361202,579,741 - 202,580,064RGDNCBI36
Celera1177,448,553 - 177,448,876RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,478,068 - 175,478,391UniSTS
TNG Radiation Hybrid Map153738.0UniSTS
SHGC-76194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,188,727 - 204,188,835UniSTSGRCh37
Build 361202,455,350 - 202,455,458RGDNCBI36
Celera1177,324,182 - 177,324,290RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,353,680 - 175,353,788UniSTS
TNG Radiation Hybrid Map153780.0UniSTS
GeneMap99-GB4 RH Map1674.01UniSTS
NCBI RH Map11743.5UniSTS
RH65974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,190,383 - 204,190,538UniSTSGRCh37
Build 361202,457,006 - 202,457,161RGDNCBI36
Celera1177,325,838 - 177,325,993RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,355,336 - 175,355,491UniSTS
GeneMap99-GB4 RH Map1674.01UniSTS
NCBI RH Map11743.5UniSTS
SHGC-147555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,233,494 - 204,233,794UniSTSGRCh37
Build 361202,500,117 - 202,500,417RGDNCBI36
Celera1177,368,933 - 177,369,233RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,398,465 - 175,398,765UniSTS
TNG Radiation Hybrid Map153767.0UniSTS
AL009483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,278,369 - 204,278,515UniSTSGRCh37
Build 361202,544,992 - 202,545,138RGDNCBI36
Celera1177,413,802 - 177,413,948RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,443,345 - 175,443,491UniSTS
SHGC-76176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,243,498 - 204,243,739UniSTSGRCh37
Build 361202,510,121 - 202,510,362RGDNCBI36
Celera1177,378,936 - 177,379,177RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,408,466 - 175,408,707UniSTS
TNG Radiation Hybrid Map153755.0UniSTS
GeneMap99-GB4 RH Map1672.28UniSTS
D1S2480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,222,374 - 204,222,484UniSTSGRCh37
Build 361202,488,997 - 202,489,107RGDNCBI36
Celera1177,357,816 - 177,357,926RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,387,349 - 175,387,459UniSTS
Whitehead-YAC Contig Map1 UniSTS
G20493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,188,052 - 204,188,251UniSTSGRCh37
Build 361202,454,675 - 202,454,874RGDNCBI36
Celera1177,323,507 - 177,323,706RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,353,005 - 175,353,204UniSTS
A005T46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,188,052 - 204,188,251UniSTSGRCh37
Build 361202,454,675 - 202,454,874RGDNCBI36
Celera1177,323,507 - 177,323,706RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,353,005 - 175,353,204UniSTS
TNG Radiation Hybrid Map153785.0UniSTS
GeneMap99-GB4 RH Map1673.93UniSTS
AFMa130xc1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,324,864 - 204,325,155UniSTSGRCh37
Build 361202,591,487 - 202,591,778RGDNCBI36
Celera1177,460,300 - 177,460,588RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,489,814 - 175,490,102UniSTS
Whitehead-RH Map1830.0UniSTS
NCBI RH Map11785.6UniSTS
AL010012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,283,242 - 204,283,373UniSTSGRCh37
Build 361202,549,865 - 202,549,996RGDNCBI36
Celera1177,418,675 - 177,418,806RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,448,211 - 175,448,342UniSTS
G66173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,308,595 - 204,308,684UniSTSGRCh37
Build 361202,575,218 - 202,575,307RGDNCBI36
Celera1177,444,030 - 177,444,119RGD
Cytogenetic Map1q32.1UniSTS
HuRef1175,473,545 - 175,473,634UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2231 4958 1724 2338 4 622 1833 464 2258 7179 6354 45 3733 845 1733 1605 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_014935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005244966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005244967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005244968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL571585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE701705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF995878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG011951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM855051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX954305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD626363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000272203   ⟹   ENSP00000272203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,218,853 - 204,359,929 (-)Ensembl
Ensembl Acc Id: ENST00000414478   ⟹   ENSP00000402046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,221,221 - 204,359,916 (-)Ensembl
Ensembl Acc Id: ENST00000485632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,261,338 - 204,262,100 (-)Ensembl
Ensembl Acc Id: ENST00000564627   ⟹   ENSP00000490720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,273,626 - 204,378,214 (-)Ensembl
Ensembl Acc Id: ENST00000637508   ⟹   ENSP00000490182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,220,756 - 204,307,395 (-)Ensembl
Ensembl Acc Id: ENST00000672625   ⟹   ENSP00000500041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,259,258 - 204,278,389 (-)Ensembl
Ensembl Acc Id: ENST00000713653   ⟹   ENSP00000518955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,218,853 - 204,288,404 (-)Ensembl
Ensembl Acc Id: ENST00000713654   ⟹   ENSP00000518956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,218,853 - 204,314,287 (-)Ensembl
Ensembl Acc Id: ENST00000713655   ⟹   ENSP00000518957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,218,853 - 204,332,058 (-)Ensembl
Ensembl Acc Id: ENST00000713656   ⟹   ENSP00000518958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,218,853 - 204,351,017 (-)Ensembl
Ensembl Acc Id: ENST00000713657   ⟹   ENSP00000518959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,218,853 - 204,359,929 (-)Ensembl
RefSeq Acc Id: NM_014935   ⟹   NP_055750
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,359,929 (-)NCBI
GRCh371204,187,979 - 204,329,057 (-)NCBI
Build 361202,454,604 - 202,595,667 (-)NCBI Archive
Celera1177,323,436 - 177,464,478 (-)RGD
HuRef1175,352,932 - 175,494,004 (-)NCBI
CHM1_11205,611,887 - 205,752,926 (-)NCBI
T2T-CHM13v2.01203,483,437 - 203,624,479 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711215   ⟹   XP_006711278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,314,280 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711219   ⟹   XP_006711282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,314,280 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711221   ⟹   XP_006711284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,359,929 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509297   ⟹   XP_011507599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,378,168 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509298   ⟹   XP_011507600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,350,983 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509299   ⟹   XP_011507601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,348,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509304   ⟹   XP_011507606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,350,983 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000690   ⟹   XP_016856179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,288,158 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000691   ⟹   XP_016856180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,264,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000692   ⟹   XP_016856181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,264,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449450   ⟹   XP_047305406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449451   ⟹   XP_047305407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449452   ⟹   XP_047305408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449453   ⟹   XP_047305409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449454   ⟹   XP_047305410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,350,983 (-)NCBI
RefSeq Acc Id: XM_047449455   ⟹   XP_047305411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,378,168 (-)NCBI
RefSeq Acc Id: XM_047449456   ⟹   XP_047305412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449457   ⟹   XP_047305413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449458   ⟹   XP_047305414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449459   ⟹   XP_047305415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,378,168 (-)NCBI
RefSeq Acc Id: XM_047449460   ⟹   XP_047305416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,378,168 (-)NCBI
RefSeq Acc Id: XM_047449461   ⟹   XP_047305417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,350,983 (-)NCBI
RefSeq Acc Id: XM_047449462   ⟹   XP_047305418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,307,593 (-)NCBI
RefSeq Acc Id: XM_047449463   ⟹   XP_047305419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,378,168 (-)NCBI
RefSeq Acc Id: XM_047449464   ⟹   XP_047305420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,378,168 (-)NCBI
RefSeq Acc Id: XM_047449465   ⟹   XP_047305421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,271,374 (-)NCBI
RefSeq Acc Id: XM_047449466   ⟹   XP_047305422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,223,462 - 204,288,158 (-)NCBI
RefSeq Acc Id: XM_047449467   ⟹   XP_047305423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,314,280 (-)NCBI
RefSeq Acc Id: XM_047449468   ⟹   XP_047305424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,288,158 (-)NCBI
RefSeq Acc Id: XM_047449469   ⟹   XP_047305425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,218,853 - 204,288,367 (-)NCBI
RefSeq Acc Id: XM_054335148   ⟹   XP_054191123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,006 (-)NCBI
RefSeq Acc Id: XM_054335149   ⟹   XP_054191124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,006 (-)NCBI
RefSeq Acc Id: XM_054335150   ⟹   XP_054191125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,006 (-)NCBI
RefSeq Acc Id: XM_054335151   ⟹   XP_054191126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,007 (-)NCBI
RefSeq Acc Id: XM_054335152   ⟹   XP_054191127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,007 (-)NCBI
RefSeq Acc Id: XM_054335153   ⟹   XP_054191128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,006 (-)NCBI
RefSeq Acc Id: XM_054335154   ⟹   XP_054191129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,006 (-)NCBI
RefSeq Acc Id: XM_054335155   ⟹   XP_054191130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335156   ⟹   XP_054191131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335157   ⟹   XP_054191132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335158   ⟹   XP_054191133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,241 (-)NCBI
RefSeq Acc Id: XM_054335159   ⟹   XP_054191134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335160   ⟹   XP_054191135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,642,952 (-)NCBI
RefSeq Acc Id: XM_054335161   ⟹   XP_054191136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335162   ⟹   XP_054191137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335163   ⟹   XP_054191138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335164   ⟹   XP_054191139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335165   ⟹   XP_054191140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335166   ⟹   XP_054191141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,615,646 (-)NCBI
RefSeq Acc Id: XM_054335167   ⟹   XP_054191142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,613,522 (-)NCBI
RefSeq Acc Id: XM_054335168   ⟹   XP_054191143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335169   ⟹   XP_054191144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,615,646 (-)NCBI
RefSeq Acc Id: XM_054335170   ⟹   XP_054191145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,642,952 (-)NCBI
RefSeq Acc Id: XM_054335171   ⟹   XP_054191146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335172   ⟹   XP_054191147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335173   ⟹   XP_054191148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,572,005 (-)NCBI
RefSeq Acc Id: XM_054335174   ⟹   XP_054191149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,552,649 (-)NCBI
RefSeq Acc Id: XM_054335175   ⟹   XP_054191150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,615,646 (-)NCBI
RefSeq Acc Id: XM_054335176   ⟹   XP_054191151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,624,479 (-)NCBI
RefSeq Acc Id: XM_054335177   ⟹   XP_054191152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,557,022 (-)NCBI
RefSeq Acc Id: XM_054335178   ⟹   XP_054191153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,642,952 (-)NCBI
RefSeq Acc Id: XM_054335179   ⟹   XP_054191154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,642,952 (-)NCBI
RefSeq Acc Id: XM_054335180   ⟹   XP_054191155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,615,642 (-)NCBI
RefSeq Acc Id: XM_054335181   ⟹   XP_054191156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,572,227 (-)NCBI
RefSeq Acc Id: XM_054335182   ⟹   XP_054191157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,642,952 (-)NCBI
RefSeq Acc Id: XM_054335183   ⟹   XP_054191158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,642,952 (-)NCBI
RefSeq Acc Id: XM_054335184   ⟹   XP_054191159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,535,943 (-)NCBI
RefSeq Acc Id: XM_054335185   ⟹   XP_054191160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,552,646 (-)NCBI
RefSeq Acc Id: XM_054335186   ⟹   XP_054191161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,583,999 (-)NCBI
RefSeq Acc Id: XM_054335187   ⟹   XP_054191162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,552,646 (-)NCBI
RefSeq Acc Id: XM_054335188   ⟹   XP_054191163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,483,437 - 203,556,217 (-)NCBI
RefSeq Acc Id: XM_054335189   ⟹   XP_054191164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,529,507 (-)NCBI
RefSeq Acc Id: XM_054335190   ⟹   XP_054191165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01203,488,044 - 203,529,507 (-)NCBI
Protein Sequences
Protein RefSeqs NP_055750 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711278 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711282 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711284 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507599 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507600 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507601 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507606 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856179 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856180 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856181 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305406 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305407 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305408 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305409 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305410 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305411 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305412 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305413 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305414 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305415 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305416 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305417 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305418 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305419 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305420 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305421 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305422 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305423 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305424 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305425 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191153 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191154 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191155 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191156 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191157 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191158 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191160 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191161 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191165 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10522 (Get FASTA)   NCBI Sequence Viewer  
  AAI52476 (Get FASTA)   NCBI Sequence Viewer  
  ABL59912 (Get FASTA)   NCBI Sequence Viewer  
  ABL59913 (Get FASTA)   NCBI Sequence Viewer  
  ABL59914 (Get FASTA)   NCBI Sequence Viewer  
  ABL59915 (Get FASTA)   NCBI Sequence Viewer  
  ABL59916 (Get FASTA)   NCBI Sequence Viewer  
  ABL59917 (Get FASTA)   NCBI Sequence Viewer  
  ABL59918 (Get FASTA)   NCBI Sequence Viewer  
  BAA76813 (Get FASTA)   NCBI Sequence Viewer  
  BAG61662 (Get FASTA)   NCBI Sequence Viewer  
  EAW91509 (Get FASTA)   NCBI Sequence Viewer  
  EAW91510 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000272203
  ENSP00000272203.2
  ENSP00000402046.1
  ENSP00000490182
  ENSP00000490182.1
  ENSP00000490720.2
  ENSP00000500041.1
  ENSP00000518955.1
  ENSP00000518956.1
  ENSP00000518957.1
  ENSP00000518958.1
  ENSP00000518959.1
GenBank Protein Q9Y2H5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055750   ⟸   NM_014935
- UniProtKB: A7MD51 (UniProtKB/Swiss-Prot),   Q5VTI6 (UniProtKB/Swiss-Prot),   Q9Y2H5 (UniProtKB/Swiss-Prot),   Q5VTI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711284   ⟸   XM_006711221
- Peptide Label: isoform X16
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711282   ⟸   XM_006711219
- Peptide Label: isoform X4
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711278   ⟸   XM_006711215
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507599   ⟸   XM_011509297
- Peptide Label: isoform X3
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507600   ⟸   XM_011509298
- Peptide Label: isoform X7
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507606   ⟸   XM_011509304
- Peptide Label: isoform X16
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507601   ⟸   XM_011509299
- Peptide Label: isoform X8
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856179   ⟸   XM_017000690
- Peptide Label: isoform X15
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856181   ⟸   XM_017000692
- Peptide Label: isoform X28
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856180   ⟸   XM_017000691
- Peptide Label: isoform X28
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000490182   ⟸   ENST00000637508
Ensembl Acc Id: ENSP00000402046   ⟸   ENST00000414478
Ensembl Acc Id: ENSP00000272203   ⟸   ENST00000272203
Ensembl Acc Id: ENSP00000490720   ⟸   ENST00000564627
Ensembl Acc Id: ENSP00000500041   ⟸   ENST00000672625
RefSeq Acc Id: XP_047305420   ⟸   XM_047449464
- Peptide Label: isoform X22
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305419   ⟸   XM_047449463
- Peptide Label: isoform X21
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305415   ⟸   XM_047449459
- Peptide Label: isoform X17
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305423   ⟸   XM_047449467
- Peptide Label: isoform X25
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305414   ⟸   XM_047449458
- Peptide Label: isoform X14
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305413   ⟸   XM_047449457
- Peptide Label: isoform X13
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305408   ⟸   XM_047449452
- Peptide Label: isoform X6
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305425   ⟸   XM_047449469
- Peptide Label: isoform X27
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305424   ⟸   XM_047449468
- Peptide Label: isoform X26
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305416   ⟸   XM_047449460
- Peptide Label: isoform X18
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305411   ⟸   XM_047449455
- Peptide Label: isoform X11
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305410   ⟸   XM_047449454
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305417   ⟸   XM_047449461
- Peptide Label: isoform X19
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305412   ⟸   XM_047449456
- Peptide Label: isoform X12
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305406   ⟸   XM_047449450
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305409   ⟸   XM_047449453
- Peptide Label: isoform X9
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305407   ⟸   XM_047449451
- Peptide Label: isoform X5
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305418   ⟸   XM_047449462
- Peptide Label: isoform X20
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305422   ⟸   XM_047449466
- Peptide Label: isoform X24
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305421   ⟸   XM_047449465
- Peptide Label: isoform X23
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191158   ⟸   XM_054335183
- Peptide Label: isoform X22
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191157   ⟸   XM_054335182
- Peptide Label: isoform X21
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191153   ⟸   XM_054335178
- Peptide Label: isoform X17
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191161   ⟸   XM_054335186
- Peptide Label: isoform X25
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191127   ⟸   XM_054335152
- Peptide Label: isoform X33
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191126   ⟸   XM_054335151
- Peptide Label: isoform X32
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191129   ⟸   XM_054335154
- Peptide Label: isoform X35
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191148   ⟸   XM_054335173
- Peptide Label: isoform X49
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191147   ⟸   XM_054335172
- Peptide Label: isoform X48
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191140   ⟸   XM_054335165
- Peptide Label: isoform X45
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191137   ⟸   XM_054335162
- Peptide Label: isoform X42
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191136   ⟸   XM_054335161
- Peptide Label: isoform X41
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191163   ⟸   XM_054335188
- Peptide Label: isoform X27
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191162   ⟸   XM_054335187
- Peptide Label: isoform X26
- UniProtKB: A0AAQ5BGL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191154   ⟸   XM_054335179
- Peptide Label: isoform X18
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191145   ⟸   XM_054335170
- Peptide Label: isoform X11
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191135   ⟸   XM_054335160
- Peptide Label: isoform X3
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191151   ⟸   XM_054335176
- Peptide Label: isoform X16
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191150   ⟸   XM_054335175
- Peptide Label: isoform X16
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191144   ⟸   XM_054335169
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191141   ⟸   XM_054335166
- Peptide Label: isoform X7
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191155   ⟸   XM_054335180
- Peptide Label: isoform X19
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191142   ⟸   XM_054335167
- Peptide Label: isoform X8
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191133   ⟸   XM_054335158
- Peptide Label: isoform X39
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191156   ⟸   XM_054335181
- Peptide Label: isoform X20
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191125   ⟸   XM_054335150
- Peptide Label: isoform X31
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191124   ⟸   XM_054335149
- Peptide Label: isoform X30
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191128   ⟸   XM_054335153
- Peptide Label: isoform X34
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191123   ⟸   XM_054335148
- Peptide Label: isoform X29
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191146   ⟸   XM_054335171
- Peptide Label: isoform X47
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191134   ⟸   XM_054335159
- Peptide Label: isoform X40
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191143   ⟸   XM_054335168
- Peptide Label: isoform X46
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191138   ⟸   XM_054335163
- Peptide Label: isoform X43
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191139   ⟸   XM_054335164
- Peptide Label: isoform X44
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191130   ⟸   XM_054335155
- Peptide Label: isoform X36
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191132   ⟸   XM_054335157
- Peptide Label: isoform X38
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191131   ⟸   XM_054335156
- Peptide Label: isoform X37
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191152   ⟸   XM_054335177
- Peptide Label: isoform X16
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191149   ⟸   XM_054335174
- Peptide Label: isoform X15
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191160   ⟸   XM_054335185
- Peptide Label: isoform X24
- UniProtKB: Q5VTI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191159   ⟸   XM_054335184
- Peptide Label: isoform X23
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191165   ⟸   XM_054335190
- Peptide Label: isoform X28
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191164   ⟸   XM_054335189
- Peptide Label: isoform X28
- UniProtKB: A0A1B0GUN5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000518956   ⟸   ENST00000713654
Ensembl Acc Id: ENSP00000518957   ⟸   ENST00000713655
Ensembl Acc Id: ENSP00000518959   ⟸   ENST00000713657
Ensembl Acc Id: ENSP00000518955   ⟸   ENST00000713653
Ensembl Acc Id: ENSP00000518958   ⟸   ENST00000713656
Protein Domains
PH   WW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2H5-F1-model_v2 AlphaFold Q9Y2H5 1-1048 view protein structure

Promoters
RGD ID:6858680
Promoter ID:EPDNEW_H2505
Type:multiple initiation site
Name:PLEKHA6_3
Description:pleckstrin homology domain containing A6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2506  EPDNEW_H2507  EPDNEW_H2508  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,288,158 - 204,288,218EPDNEW
RGD ID:6858682
Promoter ID:EPDNEW_H2506
Type:initiation region
Name:PLEKHA6_2
Description:pleckstrin homology domain containing A6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2505  EPDNEW_H2507  EPDNEW_H2508  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,359,929 - 204,359,989EPDNEW
RGD ID:6858684
Promoter ID:EPDNEW_H2507
Type:initiation region
Name:PLEKHA6_4
Description:pleckstrin homology domain containing A6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2505  EPDNEW_H2506  EPDNEW_H2508  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,377,956 - 204,378,016EPDNEW
RGD ID:6858686
Promoter ID:EPDNEW_H2508
Type:initiation region
Name:PLEKHA6_1
Description:pleckstrin homology domain containing A6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2505  EPDNEW_H2506  EPDNEW_H2507  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,378,167 - 204,378,227EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17053 AgrOrtholog
COSMIC PLEKHA6 COSMIC
Ensembl Genes ENSG00000143850 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000272203 ENTREZGENE
  ENST00000272203.8 UniProtKB/Swiss-Prot
  ENST00000414478.1 UniProtKB/TrEMBL
  ENST00000564627.3 UniProtKB/TrEMBL
  ENST00000637508 ENTREZGENE
  ENST00000637508.1 UniProtKB/TrEMBL
  ENST00000672625.1 UniProtKB/TrEMBL
  ENST00000713653.1 UniProtKB/Swiss-Prot
  ENST00000713654.1 UniProtKB/Swiss-Prot
  ENST00000713655.1 UniProtKB/Swiss-Prot
  ENST00000713656.1 UniProtKB/Swiss-Prot
  ENST00000713657.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.70.10 UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143850 GTEx
HGNC ID HGNC:17053 ENTREZGENE
Human Proteome Map PLEKHA6 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKHA4/5/6/7_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/TrEMBL
KEGG Report hsa:22874 UniProtKB/Swiss-Prot
NCBI Gene 22874 ENTREZGENE
OMIM 607771 OMIM
PANTHER PHOSPHOINOSITOL 3-PHOSPHATE-BINDING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING FAMILY A MEMBER 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134955964 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_1 UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/TrEMBL
SMART SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00456 UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51045 UniProtKB/TrEMBL
UniProt A0A1B0GUN5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GW03_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH45_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGL2 ENTREZGENE, UniProtKB/TrEMBL
  A5XEJ2_HUMAN UniProtKB/TrEMBL
  A5XEJ3_HUMAN UniProtKB/TrEMBL
  A5XEJ4_HUMAN UniProtKB/TrEMBL
  A5XEJ5_HUMAN UniProtKB/TrEMBL
  A5XEJ6_HUMAN UniProtKB/TrEMBL
  A5XEJ7_HUMAN UniProtKB/TrEMBL
  A5XEJ8_HUMAN UniProtKB/TrEMBL
  A7MD51 ENTREZGENE
  PKHA6_HUMAN UniProtKB/Swiss-Prot
  Q5VTI5 ENTREZGENE, UniProtKB/TrEMBL
  Q5VTI6 ENTREZGENE
  Q96FR0_HUMAN UniProtKB/TrEMBL
  Q9Y2H5 ENTREZGENE
UniProt Secondary A7MD51 UniProtKB/Swiss-Prot
  Q5VTI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLEKHA6  pleckstrin homology domain containing A6    pleckstrin homology domain containing, family A member 6  Symbol and/or name change 5135510 APPROVED