PICALM (phosphatidylinositol binding clathrin assembly protein) - 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: PICALM (phosphatidylinositol binding clathrin assembly protein) Homo sapiens
Analyze
Symbol: PICALM
Name: phosphatidylinositol binding clathrin assembly protein
RGD ID: 732553
HGNC Page HGNC:15514
Description: Enables several functions, including clathrin heavy chain binding activity; low-density lipoprotein particle receptor binding activity; and small GTPase binding activity. Involved in several processes, including negative regulation of protein localization; receptor-mediated endocytosis; and regulation of macromolecule metabolic process. Located in several cellular components, including clathrin-coated pit; cytoplasmic vesicle; and neurofibrillary tangle. Part of clathrin coat of coated pit. Implicated in acute myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CALM; clathrin assembly lymphoid myeloid leukemia protein; clathrin assembly lymphoid-myeloid leukemia; CLTH; LAP; phosphatidylinositol-binding clathrin assembly protein
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
GRCh381185,957,175 - 86,069,860 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,957,175 - 86,069,882 (-)EnsemblGRCh38hg38GRCh38
GRCh371185,668,218 - 85,780,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,346,133 - 85,457,756 (-)NCBINCBI36Build 36hg18NCBI36
Build 341185,346,133 - 85,457,756NCBI
Celera1182,977,768 - 83,089,435 (-)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1181,965,384 - 82,078,030 (-)NCBIHuRef
CHM1_11185,553,010 - 85,665,742 (-)NCBICHM1_1
T2T-CHM13v2.01185,893,875 - 86,006,599 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dimethoxyphenol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
acetylsalicylic acid  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
caffeine  (EXP)
carbon nanotube  (EXP,ISO)
casticin  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
eugenol  (EXP)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
furfural  (EXP)
gentamycin  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
Nutlin-3  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
Soman  (ISO)
sunitinib  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
theophylline  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid-beta clearance by transcytosis  (IEA,IGI,ISS)
axonogenesis  (IEA)
clathrin coat assembly  (IDA,IEA,IMP,ISO)
clathrin-dependent endocytosis  (IBA,IEA,IMP)
dendrite morphogenesis  (IEA)
endocytosis  (IDA,IEA)
endosomal transport  (IMP)
hemopoiesis  (IEA)
intracellular iron ion homeostasis  (IMP)
learning or memory  (IEA,ISS)
membrane bending  (IMP)
multicellular organismal-level iron ion homeostasis  (IMP)
negative regulation of gene expression  (IMP)
negative regulation of protein localization to cell surface  (IMP)
negative regulation of protein localization to plasma membrane  (IMP)
negative regulation of receptor-mediated endocytosis  (IDA)
positive regulation of amyloid precursor protein catabolic process  (IEA,ISS)
positive regulation of amyloid-beta formation  (IMP)
positive regulation of axonogenesis  (ISO)
positive regulation of dendrite extension  (ISO)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of Ras protein signal transduction  (IMP)
positive regulation of synaptic vesicle clustering  (ISO)
positive regulation of synaptic vesicle endocytosis  (ISO)
protein-containing complex assembly  (TAS)
receptor internalization  (IMP)
receptor-mediated endocytosis  (IDA,IEA)
regulation of amyloid precursor protein catabolic process  (IMP)
regulation of amyloid-beta formation  (ISS)
regulation of endocytosis  (IMP)
regulation of protein localization  (IDA)
regulation of protein transport  (ISO)
regulation of synaptic vesicle endocytosis  (ISO)
regulation of synaptic vesicle transport  (ISO)
regulation of terminal button organization  (ISO)
regulation of vesicle size  (IMP)
synaptic vesicle endocytosis  (ISO)
synaptic vesicle maturation  (IEA,ISS)
vesicle budding from membrane  (IBA,IMP)
vesicle cargo loading  (IEA,IMP)
vesicle-mediated transport  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein. Wechsler DS, etal., Genes Chromosomes Cancer. 2003 Jan;36(1):26-36.
Additional References at PubMed
PMID:1547942   PMID:8643484   PMID:9737689   PMID:10436022   PMID:10926122   PMID:11425879   PMID:12477932   PMID:14702039   PMID:14985334   PMID:15146197   PMID:15182197   PMID:15489334  
PMID:16262731   PMID:16491119   PMID:17097559   PMID:17170719   PMID:17597474   PMID:17804713   PMID:18029348   PMID:18037964   PMID:18074379   PMID:18094714   PMID:18182011   PMID:19450545  
PMID:19734902   PMID:19738201   PMID:19946888   PMID:20460622   PMID:20467437   PMID:20534741   PMID:20554627   PMID:20558387   PMID:20570404   PMID:20674675   PMID:20697030   PMID:20738160  
PMID:20739100   PMID:20804422   PMID:20838239   PMID:20951388   PMID:20963938   PMID:21059989   PMID:21220176   PMID:21221849   PMID:21297266   PMID:21300948   PMID:21347408   PMID:21358043  
PMID:21460841   PMID:21627779   PMID:21706055   PMID:21873635   PMID:21912625   PMID:21965661   PMID:21988832   PMID:22015308   PMID:22064352   PMID:22118466   PMID:22402018   PMID:22539346  
PMID:22539578   PMID:22558309   PMID:22623428   PMID:22639918   PMID:22715855   PMID:22829078   PMID:22832961   PMID:22888099   PMID:22889924   PMID:22939629   PMID:22943764   PMID:22952074  
PMID:22952941   PMID:22975751   PMID:23040034   PMID:23382074   PMID:23487024   PMID:23572399   PMID:23589030   PMID:23601808   PMID:23650005   PMID:23670296   PMID:23741335   PMID:23870418  
PMID:24067654   PMID:24076290   PMID:24095218   PMID:24162737   PMID:24577224   PMID:24578178   PMID:24613704   PMID:24618820   PMID:24660791   PMID:25022885   PMID:25169757   PMID:25241929  
PMID:25324306   PMID:25359311   PMID:25468996   PMID:25648896   PMID:25737280   PMID:25898166   PMID:25921289   PMID:25963833   PMID:26005850   PMID:26186194   PMID:26209609   PMID:26344197  
PMID:26434199   PMID:26496610   PMID:26611835   PMID:26673895   PMID:26760575   PMID:26889634   PMID:26949251   PMID:26950368   PMID:27017968   PMID:27048444   PMID:27107012   PMID:27117083  
PMID:27237791   PMID:27260836   PMID:27430330   PMID:27466196   PMID:27574975   PMID:27773727   PMID:28073596   PMID:28116548   PMID:28316001   PMID:28388416   PMID:28514442   PMID:28549650  
PMID:28558900   PMID:28567584   PMID:28631188   PMID:28675297   PMID:28986522   PMID:29128334   PMID:29395067   PMID:29467281   PMID:29568061   PMID:29883038   PMID:30039188   PMID:30040717  
PMID:30196744   PMID:30472946   PMID:30575818   PMID:30773093   PMID:30833792   PMID:30884312   PMID:31076515   PMID:31091453   PMID:31298480   PMID:31300465   PMID:31353912   PMID:31385771  
PMID:31478661   PMID:31586073   PMID:31648652   PMID:31648990   PMID:31732153   PMID:31871319   PMID:31925534   PMID:32149426   PMID:32296183   PMID:32914893   PMID:32991610   PMID:32994395  
PMID:33024031   PMID:33170153   PMID:33226740   PMID:33239621   PMID:33386803   PMID:33397371   PMID:33417871   PMID:33660365   PMID:33661592   PMID:33916271   PMID:33961781   PMID:34079125  
PMID:34155137   PMID:34159380   PMID:34273398   PMID:34311200   PMID:34349018   PMID:34369648   PMID:34445801   PMID:34591612   PMID:34597346   PMID:34650147   PMID:34702444   PMID:34709727  
PMID:34723452   PMID:34761192   PMID:34795231   PMID:35044719   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35509820   PMID:35676659   PMID:35831314   PMID:36215168  
PMID:36373674   PMID:36470425   PMID:36543142   PMID:36552756   PMID:36736316   PMID:36779422   PMID:36976175   PMID:37232246   PMID:37314180   PMID:37340423   PMID:37478010   PMID:37827155  
PMID:37974198   PMID:38007652   PMID:38117590   PMID:38363532   PMID:38891874   PMID:39182843  


Genomics

Comparative Map Data
PICALM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381185,957,175 - 86,069,860 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,957,175 - 86,069,882 (-)EnsemblGRCh38hg38GRCh38
GRCh371185,668,218 - 85,780,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,346,133 - 85,457,756 (-)NCBINCBI36Build 36hg18NCBI36
Build 341185,346,133 - 85,457,756NCBI
Celera1182,977,768 - 83,089,435 (-)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1181,965,384 - 82,078,030 (-)NCBIHuRef
CHM1_11185,553,010 - 85,665,742 (-)NCBICHM1_1
T2T-CHM13v2.01185,893,875 - 86,006,599 (-)NCBIT2T-CHM13v2.0
Picalm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39789,778,711 - 89,858,655 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl789,779,421 - 89,862,673 (+)EnsemblGRCm39 Ensembl
GRCm38790,130,192 - 90,209,447 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl790,130,213 - 90,213,465 (+)EnsemblGRCm38mm10GRCm38
MGSCv37797,278,742 - 97,357,442 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36790,005,424 - 90,084,124 (+)NCBIMGSCv36mm8
Celera787,455,394 - 87,534,538 (+)NCBICelera
Cytogenetic Map7D3NCBI
cM Map750.47NCBI
Picalm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81153,468,982 - 153,550,086 (+)NCBIGRCr8
mRatBN7.21144,056,415 - 144,138,045 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1144,056,721 - 144,137,557 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1151,982,728 - 152,062,265 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01159,159,274 - 159,238,823 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01152,033,188 - 152,112,743 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01154,377,229 - 154,458,966 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1154,377,247 - 154,458,425 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01160,681,689 - 160,763,382 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41146,754,085 - 146,834,197 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11146,832,490 - 146,912,603 (+)NCBI
Celera1142,288,691 - 142,367,949 (+)NCBICelera
Cytogenetic Map1q32NCBI
Picalm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554146,871,520 - 6,969,208 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554146,871,220 - 6,970,569 (+)NCBIChiLan1.0ChiLan1.0
PICALM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2986,878,789 - 86,989,754 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11187,929,638 - 88,040,190 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01181,011,324 - 81,122,352 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11184,619,241 - 84,730,516 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,619,241 - 84,730,684 (-)Ensemblpanpan1.1panPan2
PICALM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12113,437,819 - 13,540,167 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2113,437,925 - 13,539,616 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2113,303,451 - 13,405,757 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02113,619,410 - 13,719,561 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2113,619,520 - 13,719,419 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12113,405,869 - 13,508,626 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02113,478,428 - 13,581,047 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02113,531,568 - 13,633,911 (+)NCBIUU_Cfam_GSD_1.0
Picalm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494772,186,022 - 72,286,358 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649813,784,886 - 13,886,167 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649813,785,638 - 13,885,931 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PICALM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl919,835,938 - 20,123,566 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1919,835,934 - 19,947,239 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2922,107,100 - 22,184,702 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PICALM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1177,214,391 - 77,325,626 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl177,213,836 - 77,324,875 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604348,400,453 - 48,511,604 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Picalm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248453,891,061 - 3,990,342 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248453,875,601 - 3,990,347 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PICALM
84 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000050364] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3		 pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2		 pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3 copy number gain See cases [RCV000053637] Chr11:78362208..86165380 [GRCh38]
Chr11:78073254..85876422 [GRCh37]
Chr11:77750902..85554070 [NCBI36]
Chr11:11q14.1-14.2		 pathogenic
NM_001206947.1(PICALM):c.-23-8442C>G single nucleotide variant Lung cancer [RCV000110368] Chr11:86040053 [GRCh38]
Chr11:85751095 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_001206947.1(PICALM):c.-23-8518C>A single nucleotide variant Lung cancer [RCV000110369] Chr11:86040129 [GRCh38]
Chr11:85751171 [GRCh37]
Chr11:11q14.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1		 pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3 copy number gain See cases [RCV000134108] Chr11:84828513..86641208 [GRCh38]
Chr11:84539556..86352250 [GRCh37]
Chr11:84217204..86029898 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3 copy number gain See cases [RCV000139711] Chr11:84765986..86641166 [GRCh38]
Chr11:84477029..86352208 [GRCh37]
Chr11:84154677..86029856 [NCBI36]
Chr11:11q14.1-14.2		 likely pathogenic|uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000148175] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)x1 copy number loss See cases [RCV000448261] Chr11:85324893..85757693 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 copy number loss See cases [RCV000448436] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21		 likely pathogenic
NM_007166.4(PICALM):c.1770T>G (p.Ala590=) single nucleotide variant PICALM-related disorder [RCV003972731]|not provided [RCV001712412]|not specified [RCV000454453] Chr11:85981138 [GRCh38]
Chr11:85692181 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.766-15A>G single nucleotide variant not provided [RCV001618699]|not specified [RCV000455090] Chr11:86007598 [GRCh38]
Chr11:85718641 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.522G>A (p.Gln174=) single nucleotide variant PICALM-related disorder [RCV003972732]|not provided [RCV001653805]|not specified [RCV000455901] Chr11:86014894 [GRCh38]
Chr11:85725937 [GRCh37]
Chr11:11q14.2		 benign
NM_001206947.1(PICALM):c.992C>T (p.Ser331Phe) single nucleotide variant Malignant melanoma [RCV000069729] Chr11:86000652 [GRCh38]
Chr11:85711695 [GRCh37]
Chr11:85389343 [NCBI36]
Chr11:11q14.2		 not provided
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:85475317-85681916)x1 copy number loss See cases [RCV000510957] Chr11:85475317..85681916 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3 copy number gain See cases [RCV000512406] Chr11:85506017..86930835 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
Single allele deletion Exudative vitreoretinopathy 1 [RCV000677964] Chr11:83315294..86755595 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
GRCh37/hg19 11q14.2(chr11:85689406-86208902)x3 copy number gain not provided [RCV000683340] Chr11:85689406..86208902 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) copy number loss Intellectual disability [RCV000721939] Chr11:81771852..90851187 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.2(chr11:85642444-85685166)x3 copy number gain not provided [RCV000737609] Chr11:85642444..85685166 [GRCh37]
Chr11:11q14.2		 benign
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21		 pathogenic
NM_007166.4(PICALM):c.306G>A (p.Thr102=) single nucleotide variant not provided [RCV000925311] Chr11:86026335 [GRCh38]
Chr11:85737377 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.1155-8C>T single nucleotide variant not provided [RCV000968908] Chr11:85996937 [GRCh38]
Chr11:85707980 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1155-7T>A single nucleotide variant not provided [RCV000972131] Chr11:85996936 [GRCh38]
Chr11:85707979 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1215A>G (p.Val405=) single nucleotide variant not provided [RCV000901255] Chr11:85996869 [GRCh38]
Chr11:85707912 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1770T>A (p.Ala590=) single nucleotide variant not provided [RCV000906365] Chr11:85981138 [GRCh38]
Chr11:85692181 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.274-1G>A single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850438] Chr11:86026368 [GRCh38]
Chr11:85737410 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1 copy number loss not provided [RCV001006422] Chr11:83530179..87059742 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
NM_007166.4(PICALM):c.1175A>G (p.Asp392Gly) single nucleotide variant not specified [RCV004311423] Chr11:85996909 [GRCh38]
Chr11:85707952 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1944+177G>A single nucleotide variant not provided [RCV001686810] Chr11:85974531 [GRCh38]
Chr11:85685574 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1840-296T>A single nucleotide variant not provided [RCV001674114] Chr11:85975108 [GRCh38]
Chr11:85686151 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.766-37T>G single nucleotide variant not provided [RCV001710002] Chr11:86007620 [GRCh38]
Chr11:85718663 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.274-93T>C single nucleotide variant not provided [RCV001616099] Chr11:86026460 [GRCh38]
Chr11:85737502 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.547-92G>A single nucleotide variant not provided [RCV001657419] Chr11:86012484 [GRCh38]
Chr11:85723527 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.350-217A>G single nucleotide variant not provided [RCV001648867] Chr11:86022686 [GRCh38]
Chr11:85733729 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.273+293del deletion not provided [RCV001696722] Chr11:86031176 [GRCh38]
Chr11:85742218 [GRCh37]
Chr11:11q14.2		 benign
NM_001206947.2(PICALM):c.-24+314A>G single nucleotide variant not provided [RCV001620930] Chr11:86069406 [GRCh38]
Chr11:85780448 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.766-190G>C single nucleotide variant not provided [RCV001677401] Chr11:86007773 [GRCh38]
Chr11:85718816 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1409-7T>C single nucleotide variant not provided [RCV000925536] Chr11:85983980 [GRCh38]
Chr11:85695023 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.942A>G (p.Leu314=) single nucleotide variant not provided [RCV000930744] Chr11:86001110 [GRCh38]
Chr11:85712153 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1758C>T (p.Thr586=) single nucleotide variant not provided [RCV000956983] Chr11:85981150 [GRCh38]
Chr11:85692193 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.453-288A>C single nucleotide variant not provided [RCV001721753] Chr11:86015251 [GRCh38]
Chr11:85726294 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.893+121A>G single nucleotide variant not provided [RCV001676454] Chr11:86003245 [GRCh38]
Chr11:85714288 [GRCh37]
Chr11:11q14.2		 benign
GRCh37/hg19 11q14.2(chr11:85774745-85990954)x3 copy number gain not provided [RCV001006427] Chr11:85774745..85990954 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1259-299A>G single nucleotide variant not provided [RCV001671424] Chr11:85990698 [GRCh38]
Chr11:85701741 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.349+269G>C single nucleotide variant not provided [RCV001720633] Chr11:86026023 [GRCh38]
Chr11:85737065 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1840-241A>C single nucleotide variant not provided [RCV001674438] Chr11:85975053 [GRCh38]
Chr11:85686096 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1259-180A>G single nucleotide variant not provided [RCV001674624] Chr11:85990579 [GRCh38]
Chr11:85701622 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.658+197G>A single nucleotide variant not provided [RCV001528069] Chr11:86012084 [GRCh38]
Chr11:85723127 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1780-1710A>G single nucleotide variant not provided [RCV001661048] Chr11:85978392 [GRCh38]
Chr11:85689435 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.894-236A>G single nucleotide variant not provided [RCV001620556] Chr11:86001394 [GRCh38]
Chr11:85712437 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.659-68dup duplication not provided [RCV001674219] Chr11:86011195..86011196 [GRCh38]
Chr11:85722238..85722239 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1945-284_1945-283del deletion not provided [RCV001610867] Chr11:85959343..85959344 [GRCh38]
Chr11:85670386..85670387 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1516+301T>C single nucleotide variant not provided [RCV001616667] Chr11:85983565 [GRCh38]
Chr11:85694608 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.349+205A>G single nucleotide variant not provided [RCV001609891] Chr11:86026087 [GRCh38]
Chr11:85737129 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.808-111A>G single nucleotide variant not provided [RCV001641403] Chr11:86003562 [GRCh38]
Chr11:85714605 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1517-307G>A single nucleotide variant not provided [RCV001614733] Chr11:85982310 [GRCh38]
Chr11:85693353 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.452+345T>G single nucleotide variant not provided [RCV001710081] Chr11:86022022 [GRCh38]
Chr11:85733065 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.894-306A>G single nucleotide variant not provided [RCV001690869] Chr11:86001464 [GRCh38]
Chr11:85712507 [GRCh37]
Chr11:11q14.2		 benign
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 copy number gain not provided [RCV001006426] Chr11:84830143..92029933 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic
NM_007166.4(PICALM):c.1680-71T>G single nucleotide variant not provided [RCV001528007] Chr11:85981299 [GRCh38]
Chr11:85692342 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.452+302A>C single nucleotide variant not provided [RCV001655543] Chr11:86022065 [GRCh38]
Chr11:85733108 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1779+111T>C single nucleotide variant not provided [RCV001617493] Chr11:85981018 [GRCh38]
Chr11:85692061 [GRCh37]
Chr11:11q14.2		 benign
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1		 pathogenic
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) copy number loss not specified [RCV002052942] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21		 likely pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693) copy number loss not specified [RCV002052943] Chr11:85324893..85757693 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
NC_000011.9:g.(?_85339652)_(86666127_?)del deletion not provided [RCV003122860] Chr11:85339652..86666127 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_007166.4(PICALM):c.1598G>A (p.Ser533Asn) single nucleotide variant not specified [RCV004295425] Chr11:85981922 [GRCh38]
Chr11:85692965 [GRCh37]
Chr11:11q14.2		 likely benign
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1 copy number loss not provided [RCV002474501] Chr11:80562738..88663067 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3		 pathogenic
NM_007166.4(PICALM):c.788A>G (p.Asp263Gly) single nucleotide variant not specified [RCV004126716] Chr11:86007561 [GRCh38]
Chr11:85718604 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1164G>T (p.Lys388Asn) single nucleotide variant not specified [RCV004180355] Chr11:85996920 [GRCh38]
Chr11:85707963 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.73A>G (p.Thr25Ala) single nucleotide variant not specified [RCV004099121] Chr11:86068708 [GRCh38]
Chr11:85779750 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1078C>T (p.Pro360Ser) single nucleotide variant not specified [RCV004115128] Chr11:86000719 [GRCh38]
Chr11:85711762 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.692A>G (p.Lys231Arg) single nucleotide variant not specified [RCV004227856] Chr11:86011103 [GRCh38]
Chr11:85722146 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1447G>T (p.Ala483Ser) single nucleotide variant not specified [RCV004232250] Chr11:85983935 [GRCh38]
Chr11:85694978 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1331G>C (p.Ser444Thr) single nucleotide variant not specified [RCV004275655] Chr11:85990327 [GRCh38]
Chr11:85701370 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.547-5C>T single nucleotide variant PICALM-related disorder [RCV003971363] Chr11:86012397 [GRCh38]
Chr11:85723440 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.585T>C (p.Ala195=) single nucleotide variant PICALM-related disorder [RCV003927006] Chr11:86012354 [GRCh38]
Chr11:85723397 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.1777A>G (p.Met593Val) single nucleotide variant PICALM-related disorder [RCV003981418] Chr11:85981131 [GRCh38]
Chr11:85692174 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.1303A>G (p.Ser435Gly) single nucleotide variant not specified [RCV004503509] Chr11:85990355 [GRCh38]
Chr11:85701398 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.238A>G (p.Ile80Val) single nucleotide variant not specified [RCV004503511] Chr11:86031504 [GRCh38]
Chr11:85742546 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.997G>A (p.Ala333Thr) single nucleotide variant not specified [RCV004503514] Chr11:86001055 [GRCh38]
Chr11:85712098 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.119A>G (p.Lys40Arg) single nucleotide variant not provided [RCV004697956] Chr11:86068662 [GRCh38]
Chr11:85779704 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:81041448-98151664)x1 copy number loss not provided [RCV004819372] Chr11:81041448..98151664 [GRCh37]
Chr11:11q14.1-22.1		 pathogenic
NM_007166.4(PICALM):c.1903A>T (p.Met635Leu) single nucleotide variant not specified [RCV004844372] Chr11:85974749 [GRCh38]
Chr11:85685792 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1702G>T (p.Gly568Cys) single nucleotide variant not specified [RCV004844374] Chr11:85981206 [GRCh38]
Chr11:85692249 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1906A>G (p.Arg636Gly) single nucleotide variant not specified [RCV004850425] Chr11:85974746 [GRCh38]
Chr11:85685789 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.502G>C (p.Val168Leu) single nucleotide variant not specified [RCV004844375] Chr11:86014914 [GRCh38]
Chr11:85725957 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1417C>T (p.Pro473Ser) single nucleotide variant not specified [RCV004844371] Chr11:85983965 [GRCh38]
Chr11:85695008 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
NM_007166.4(PICALM):c.350-304_350-303insAT insertion not provided [RCV001616206] Chr11:86022772..86022773 [GRCh38]
Chr11:85733815..85733816 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1375A>G (p.Thr459Ala) single nucleotide variant not specified [RCV004322061] Chr11:85990283 [GRCh38]
Chr11:85701326 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1751C>A (p.Pro584Gln) single nucleotide variant not specified [RCV004088329] Chr11:85981157 [GRCh38]
Chr11:85692200 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.688T>C (p.Cys230Arg) single nucleotide variant not specified [RCV004154217] Chr11:86011107 [GRCh38]
Chr11:85722150 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1264T>G (p.Phe422Val) single nucleotide variant not specified [RCV004351404] Chr11:85990394 [GRCh38]
Chr11:85701437 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1231G>C (p.Ala411Pro) single nucleotide variant PICALM-related disorder [RCV003949090]|not provided [RCV003885781] Chr11:85996853 [GRCh38]
Chr11:85707896 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.1610C>A (p.Ser537Tyr) single nucleotide variant not specified [RCV004503510] Chr11:85981910 [GRCh38]
Chr11:85692953 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.244A>G (p.Thr82Ala) single nucleotide variant not specified [RCV004503512] Chr11:86031498 [GRCh38]
Chr11:85742540 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1300C>G (p.Pro434Ala) single nucleotide variant not specified [RCV004503508] Chr11:85990358 [GRCh38]
Chr11:85701401 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.547G>A (p.Val183Ile) single nucleotide variant not specified [RCV004503513] Chr11:86012392 [GRCh38]
Chr11:85723435 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.961G>C (p.Glu321Gln) single nucleotide variant not specified [RCV004648134] Chr11:86001091 [GRCh38]
Chr11:85712134 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1532G>A (p.Gly511Asp) single nucleotide variant not specified [RCV004648135] Chr11:85981988 [GRCh38]
Chr11:85693031 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1856G>A (p.Ser619Asn) single nucleotide variant not specified [RCV004844368] Chr11:85974796 [GRCh38]
Chr11:85685839 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.1766A>C (p.Asn589Thr) single nucleotide variant not specified [RCV004844369] Chr11:85981142 [GRCh38]
Chr11:85692185 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_007166.4(PICALM):c.250C>T (p.His84Tyr) single nucleotide variant not specified [RCV004844370] Chr11:86031492 [GRCh38]
Chr11:85742534 [GRCh37]
Chr11:11q14.2		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoProteomics;MicroarrayNon-Functional MTI (Weak)18668037

Predicted Target Of
Summary Value
Count of predictions:3242
Count of miRNA genes:976
Interacting mature miRNAs:1199
Transcripts:ENST00000356360, ENST00000393346, ENST00000525162, ENST00000526033, ENST00000526548, ENST00000526907, ENST00000526961, ENST00000528256, ENST00000528398, ENST00000528411, ENST00000529016, ENST00000529760, ENST00000530542, ENST00000530692, ENST00000531558, ENST00000531771, ENST00000531930, ENST00000532041, ENST00000532317, ENST00000532603, ENST00000533350, ENST00000534375, ENST00000534412
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407138564GWAS787540_HAlzheimer disease QTL GWAS787540 (human)0.0000001Alzheimer disease118597054085970541Human
596981846GWAS1101365_Hmemory performance QTL GWAS1101365 (human)0.000006memory performance118606550286065503Human
597132242GWAS1228316_Hmemory performance QTL GWAS1228316 (human)0.000003memory performance118596343585963436Human
596981139GWAS1100658_Hmemory performance QTL GWAS1100658 (human)0.000005memory performance118603820186038202Human
597132250GWAS1228324_Hmemory performance QTL GWAS1228324 (human)0.000004memory performance118597092085970921Human
596981144GWAS1100663_Hmemory performance QTL GWAS1100663 (human)0.000006memory performance118601863186018632Human
597462866GWAS1558940_HAlzheimer disease QTL GWAS1558940 (human)6e-16Alzheimer disease118606550286065503Human
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
597131973GWAS1228047_Hmemory performance QTL GWAS1228047 (human)0.00001memory performance118599354985993550Human
597199499GWAS1295573_Hmemory performance QTL GWAS1295573 (human)0.000006memory performance118601863186018632Human
596980289GWAS1099808_Hmemory performance QTL GWAS1099808 (human)0.000003memory performance118596343585963436Human
597109634GWAS1205708_Hplatelet count QTL GWAS1205708 (human)5e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)118605530886055312Human
597201935GWAS1298009_Hmemory performance QTL GWAS1298009 (human)0.000007memory performance118601863186018632Human
406951126GWAS600102_Hplatelet count QTL GWAS600102 (human)4e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)118602024386020244Human
596980300GWAS1099819_Hmemory performance QTL GWAS1099819 (human)0.000004memory performance118597092085970921Human
596985998GWAS1105517_Hmemory performance QTL GWAS1105517 (human)0.000005memory performance118596343585963436Human
597025486GWAS1121560_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS1121560 (human)2e-18Alzheimer disease, family history of Alzheimer’s disease118606550286065503Human
596982600GWAS1102119_Hmemory performance QTL GWAS1102119 (human)0.000008memory performance118603820186038202Human
597068104GWAS1164178_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS1164178 (human)5e-08Alzheimer disease, family history of Alzheimer’s disease118600469386004694Human
597199494GWAS1295568_Hmemory performance QTL GWAS1295568 (human)0.000005memory performance118603820186038202Human
597423877GWAS1519951_HAlzheimer disease QTL GWAS1519951 (human)3e-14Alzheimer disease118606550286065503Human
597253126GWAS1349200_Hplatelet count QTL GWAS1349200 (human)6e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)118596065985960660Human
596980085GWAS1099604_Hmemory performance QTL GWAS1099604 (human)0.000007memory performance118601863186018632Human
597201723GWAS1297797_Hmemory performance QTL GWAS1297797 (human)0.000006memory performance118597092085970921Human
597233594GWAS1329668_HIschemic stroke QTL GWAS1329668 (human)0.000009Ischemic stroke118602399286023993Human
597049650GWAS1145724_Herythrocyte count QTL GWAS1145724 (human)4e-09erythrocyte countred blood cell count (CMO:0000025)118599108785991088Human
596980080GWAS1099599_Hmemory performance QTL GWAS1099599 (human)0.000006memory performance118597092085970921Human
597220989GWAS1317063_Hplatelet count QTL GWAS1317063 (human)1e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)118605806386058064Human
597131761GWAS1227835_Hmemory performance QTL GWAS1227835 (human)0.000005memory performance118596343585963436Human
597277233GWAS1373307_HAlzheimer disease, polygenic risk score QTL GWAS1373307 (human)7e-10Alzheimer disease, polygenic risk score118600498986004990Human
597152697GWAS1248771_Hlifestyle measurement, anxiety disorder measurement QTL GWAS1248771 (human)1e-10anxiety-related behavior trait (VT:0010716)118603516586035166Human
597265193GWAS1361267_Hinsomnia QTL GWAS1361267 (human)1e-09insomnia118605365186053652Human
597463662GWAS1559736_HAlzheimer's disease biomarker measurement QTL GWAS1559736 (human)4e-14Alzheimer's disease biomarker measurement118606550286065503Human
407127090GWAS776066_HAlzheimer disease QTL GWAS776066 (human)2e-08Alzheimer disease118596642885966429Human
597202401GWAS1298475_Hmemory performance QTL GWAS1298475 (human)0.000006memory performance118606550286065503Human
596980014GWAS1099533_Hmemory performance QTL GWAS1099533 (human)0.00001memory performance118599354985993550Human
597202211GWAS1298285_Hmemory performance QTL GWAS1298285 (human)0.000008memory performance118603820186038202Human

Markers in Region
SHGC-24065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,748 - 85,668,875UniSTSGRCh37
Build 361185,346,396 - 85,346,523RGDNCBI36
Celera1182,978,031 - 82,978,158RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,918 - 81,966,045UniSTS
Stanford-G3 RH Map113758.0UniSTS
GeneMap99-G3 RH Map113758.0UniSTS
RH68651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,671,562 - 85,671,713UniSTSGRCh37
Build 361185,349,210 - 85,349,361RGDNCBI36
Celera1182,980,847 - 82,980,998RGD
Cytogenetic Map11q14UniSTS
HuRef1181,968,729 - 81,968,880UniSTS
GeneMap99-GB4 RH Map11299.25UniSTS
NCBI RH Map11745.1UniSTS
RH91128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,721 - 85,668,906UniSTSGRCh37
Build 361185,346,369 - 85,346,554RGDNCBI36
Celera1182,978,004 - 82,978,189RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,891 - 81,966,076UniSTS
GeneMap99-GB4 RH Map11298.62UniSTS
RH121569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,778,251 - 85,778,596UniSTSGRCh37
Build 361185,455,899 - 85,456,244RGDNCBI36
Celera1183,087,576 - 83,087,921RGD
Cytogenetic Map11q14UniSTS
HuRef1182,075,356 - 82,075,701UniSTS
TNG Radiation Hybrid Map1139458.0UniSTS
D11S3967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,714 - 85,668,914UniSTSGRCh37
Build 361185,346,362 - 85,346,562RGDNCBI36
Celera1182,977,997 - 82,978,197RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,884 - 81,966,084UniSTS
Whitehead-YAC Contig Map11 UniSTS
SGC33091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,279 - 85,668,405UniSTSGRCh37
Build 361185,345,927 - 85,346,053RGDNCBI36
Celera1182,977,562 - 82,977,688RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,449 - 81,965,575UniSTS
GeneMap99-GB4 RH Map11299.07UniSTS
Whitehead-RH Map11397.7UniSTS
RH44979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,754,648 - 85,754,759UniSTSGRCh37
Build 361185,432,296 - 85,432,407RGDNCBI36
Celera1183,063,964 - 83,064,075RGD
Cytogenetic Map11q14UniSTS
HuRef1182,051,831 - 82,051,942UniSTS
GeneMap99-GB4 RH Map11301.88UniSTS
NCBI RH Map11756.4UniSTS
SHGC-35169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,755,320 - 85,755,470UniSTSGRCh37
Build 361185,432,968 - 85,433,118RGDNCBI36
Celera1183,064,636 - 83,064,786RGD
Cytogenetic Map11cen-q12.1UniSTS
Cytogenetic Map11q14UniSTS
HuRef1182,052,503 - 82,052,653UniSTS
Stanford-G3 RH Map113788.0UniSTS
GeneMap99-GB4 RH Map11301.36UniSTS
Whitehead-RH Map11399.2UniSTS
GeneMap99-G3 RH Map113788.0UniSTS
RH66557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,873 - 85,669,036UniSTSGRCh37
Build 361185,346,521 - 85,346,684RGDNCBI36
Celera1182,978,156 - 82,978,319RGD
Cytogenetic Map11q14UniSTS
HuRef1181,966,043 - 81,966,206UniSTS
GeneMap99-GB4 RH Map11299.07UniSTS
WI-11672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,718,335 - 85,718,484UniSTSGRCh37
Build 361185,395,983 - 85,396,132RGDNCBI36
Celera1183,027,622 - 83,027,771RGD
Cytogenetic Map11q14UniSTS
HuRef1182,015,505 - 82,015,654UniSTS
GeneMap99-GB4 RH Map11300.62UniSTS
Whitehead-RH Map11399.5UniSTS
NCBI RH Map11752.1UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF477007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY326466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA415536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN310579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC300074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF051633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U45976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356360   ⟹   ENSP00000348718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,987 - 86,068,780 (-)Ensembl
Ensembl Acc Id: ENST00000393346   ⟹   ENSP00000377015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,957,175 - 86,069,084 (-)Ensembl
Ensembl Acc Id: ENST00000525162   ⟹   ENSP00000436508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,012,343 - 86,069,539 (-)Ensembl
Ensembl Acc Id: ENST00000526033   ⟹   ENSP00000433846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,957,688 - 86,069,097 (-)Ensembl
Ensembl Acc Id: ENST00000526548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,811 - 85,977,005 (-)Ensembl
Ensembl Acc Id: ENST00000526907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,974,782 - 85,978,715 (-)Ensembl
Ensembl Acc Id: ENST00000526961   ⟹   ENSP00000432976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,959,037 - 85,996,929 (-)Ensembl
Ensembl Acc Id: ENST00000528256   ⟹   ENSP00000431545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,014,870 - 86,069,081 (-)Ensembl
Ensembl Acc Id: ENST00000528398   ⟹   ENSP00000434884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,839 - 86,069,882 (-)Ensembl
Ensembl Acc Id: ENST00000528411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,022,378 - 86,069,311 (-)Ensembl
Ensembl Acc Id: ENST00000529016   ⟹   ENSP00000432509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,959,023 - 86,001,141 (-)Ensembl
Ensembl Acc Id: ENST00000529760   ⟹   ENSP00000435807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,818 - 86,001,158 (-)Ensembl
Ensembl Acc Id: ENST00000530542   ⟹   ENSP00000435737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,976,649 - 86,001,158 (-)Ensembl
Ensembl Acc Id: ENST00000530692   ⟹   ENSP00000436852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,755 - 85,990,258 (-)Ensembl
Ensembl Acc Id: ENST00000531558   ⟹   ENSP00000433166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,011,112 - 86,068,984 (-)Ensembl
Ensembl Acc Id: ENST00000531771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,007,369 - 86,022,469 (-)Ensembl
Ensembl Acc Id: ENST00000531930   ⟹   ENSP00000433303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,012,281 - 86,069,811 (-)Ensembl
Ensembl Acc Id: ENST00000532041   ⟹   ENSP00000431728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,012,329 - 86,068,945 (-)Ensembl
Ensembl Acc Id: ENST00000532317   ⟹   ENSP00000436958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,957,684 - 86,069,059 (-)Ensembl
Ensembl Acc Id: ENST00000532603   ⟹   ENSP00000435311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,883 - 85,983,900 (-)Ensembl
Ensembl Acc Id: ENST00000533350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,001,031 - 86,003,778 (-)Ensembl
Ensembl Acc Id: ENST00000534375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,981,184 - 85,982,185 (-)Ensembl
Ensembl Acc Id: ENST00000534412   ⟹   ENSP00000435499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,000,681 - 86,068,797 (-)Ensembl
Ensembl Acc Id: ENST00000630913   ⟹   ENSP00000487119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,958,817 - 86,068,929 (-)Ensembl
RefSeq Acc Id: NM_001008660   ⟹   NP_001008660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)ENTREZGENE
GRCh371185,668,214 - 85,780,923 (-)NCBI
Build 361185,346,133 - 85,457,756 (-)NCBI Archive
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,664,958 (-)NCBI
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206946   ⟹   NP_001193875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,664,958 (-)NCBI
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206947   ⟹   NP_001193876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,860 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,665,742 (-)NCBI
T2T-CHM13v2.01185,893,875 - 86,006,599 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001411034   ⟹   NP_001397963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: NM_007166   ⟹   NP_009097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)ENTREZGENE
GRCh371185,668,214 - 85,780,923 (-)NCBI
Build 361185,346,133 - 85,457,756 (-)NCBI Archive
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,664,958 (-)NCBI
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274322   ⟹   XP_005274379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274326   ⟹   XP_005274383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274328   ⟹   XP_005274385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274329   ⟹   XP_005274386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274334   ⟹   XP_005274391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274336   ⟹   XP_005274393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274337   ⟹   XP_005274394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274340   ⟹   XP_005274397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018381   ⟹   XP_016873870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018383   ⟹   XP_016873872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018384   ⟹   XP_016873873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018385   ⟹   XP_016873874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018386   ⟹   XP_016873875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018387   ⟹   XP_016873876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018388   ⟹   XP_016873877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448700   ⟹   XP_024304468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427659   ⟹   XP_047283615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427660   ⟹   XP_047283616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,860 (-)NCBI
RefSeq Acc Id: XM_047427661   ⟹   XP_047283617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427662   ⟹   XP_047283618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427663   ⟹   XP_047283619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427665   ⟹   XP_047283621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427666   ⟹   XP_047283622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,860 (-)NCBI
RefSeq Acc Id: XM_047427667   ⟹   XP_047283623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427668   ⟹   XP_047283624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_047427669   ⟹   XP_047283625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
RefSeq Acc Id: XM_054370097   ⟹   XP_054226072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370098   ⟹   XP_054226073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370099   ⟹   XP_054226074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370100   ⟹   XP_054226075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370101   ⟹   XP_054226076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370102   ⟹   XP_054226077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370103   ⟹   XP_054226078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370104   ⟹   XP_054226079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,006,599 (-)NCBI
RefSeq Acc Id: XM_054370105   ⟹   XP_054226080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370106   ⟹   XP_054226081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370107   ⟹   XP_054226082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370108   ⟹   XP_054226083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370109   ⟹   XP_054226084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370110   ⟹   XP_054226085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370111   ⟹   XP_054226086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370112   ⟹   XP_054226087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370113   ⟹   XP_054226088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370114   ⟹   XP_054226089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370115   ⟹   XP_054226090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370116   ⟹   XP_054226091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370117   ⟹   XP_054226092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370118   ⟹   XP_054226093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370119   ⟹   XP_054226094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370120   ⟹   XP_054226095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,006,599 (-)NCBI
RefSeq Acc Id: XM_054370121   ⟹   XP_054226096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370122   ⟹   XP_054226097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
RefSeq Acc Id: XM_054370123   ⟹   XP_054226098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,893,875 - 86,005,823 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001008660 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193875 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193876 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397963 (Get FASTA)   NCBI Sequence Viewer  
  NP_009097 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274379 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274383 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274385 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274386 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274391 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274393 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274394 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274397 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873870 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873872 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873873 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873874 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873875 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873876 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873877 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304468 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283615 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283616 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283617 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283618 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283619 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283621 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283622 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283623 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283624 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283625 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226098 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB07762 (Get FASTA)   NCBI Sequence Viewer  
  AAC16711 (Get FASTA)   NCBI Sequence Viewer  
  AAC16712 (Get FASTA)   NCBI Sequence Viewer  
  AAH48259 (Get FASTA)   NCBI Sequence Viewer  
  AAH64357 (Get FASTA)   NCBI Sequence Viewer  
  AAH73961 (Get FASTA)   NCBI Sequence Viewer  
  AAN03747 (Get FASTA)   NCBI Sequence Viewer  
  AAR99516 (Get FASTA)   NCBI Sequence Viewer  
  ABK54356 (Get FASTA)   NCBI Sequence Viewer  
  BAE06099 (Get FASTA)   NCBI Sequence Viewer  
  BAF84103 (Get FASTA)   NCBI Sequence Viewer  
  BAG59583 (Get FASTA)   NCBI Sequence Viewer  
  BAG62035 (Get FASTA)   NCBI Sequence Viewer  
  BAG70122 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43392 (Get FASTA)   NCBI Sequence Viewer  
  EAW75118 (Get FASTA)   NCBI Sequence Viewer  
  EAW75119 (Get FASTA)   NCBI Sequence Viewer  
  EAW75120 (Get FASTA)   NCBI Sequence Viewer  
  EAW75121 (Get FASTA)   NCBI Sequence Viewer  
  EAW75122 (Get FASTA)   NCBI Sequence Viewer  
  EAW75123 (Get FASTA)   NCBI Sequence Viewer  
  EAW75124 (Get FASTA)   NCBI Sequence Viewer  
  EAW75125 (Get FASTA)   NCBI Sequence Viewer  
  EAW75126 (Get FASTA)   NCBI Sequence Viewer  
  EAW75127 (Get FASTA)   NCBI Sequence Viewer  
  EAW75128 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000348718
  ENSP00000348718.5
  ENSP00000377015
  ENSP00000377015.3
  ENSP00000433846
  ENSP00000433846.1
  ENSP00000434884
  ENSP00000434884.1
  ENSP00000436958
  ENSP00000436958.1
GenBank Protein Q13492 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001193876   ⟸   NM_001206947
- Peptide Label: isoform 4
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008660   ⟸   NM_001008660
- Peptide Label: isoform 2
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193875   ⟸   NM_001206946
- Peptide Label: isoform 3
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_009097   ⟸   NM_007166
- Peptide Label: isoform 1
- UniProtKB: Q6GMQ6 (UniProtKB/Swiss-Prot),   Q4LE54 (UniProtKB/Swiss-Prot),   O60700 (UniProtKB/Swiss-Prot),   F8VPG7 (UniProtKB/Swiss-Prot),   E9PN05 (UniProtKB/Swiss-Prot),   B4DTM3 (UniProtKB/Swiss-Prot),   Q86XZ9 (UniProtKB/Swiss-Prot),   Q13492 (UniProtKB/Swiss-Prot),   A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274393   ⟸   XM_005274336
- Peptide Label: isoform X12
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274397   ⟸   XM_005274340
- Peptide Label: isoform X22
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274391   ⟸   XM_005274334
- Peptide Label: isoform X9
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274386   ⟸   XM_005274329
- Peptide Label: isoform X6
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274385   ⟸   XM_005274328
- Peptide Label: isoform X3
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274394   ⟸   XM_005274337
- Peptide Label: isoform X15
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274383   ⟸   XM_005274326
- Peptide Label: isoform X2
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274379   ⟸   XM_005274322
- Peptide Label: isoform X1
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873877   ⟸   XM_017018388
- Peptide Label: isoform X20
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873876   ⟸   XM_017018387
- Peptide Label: isoform X19
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873875   ⟸   XM_017018386
- Peptide Label: isoform X18
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873870   ⟸   XM_017018381
- Peptide Label: isoform X5
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873873   ⟸   XM_017018384
- Peptide Label: isoform X14
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873872   ⟸   XM_017018383
- Peptide Label: isoform X13
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873874   ⟸   XM_017018385
- Peptide Label: isoform X16
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304468   ⟸   XM_024448700
- Peptide Label: isoform X4
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000436852   ⟸   ENST00000530692
Ensembl Acc Id: ENSP00000435737   ⟸   ENST00000530542
Ensembl Acc Id: ENSP00000433303   ⟸   ENST00000531930
Ensembl Acc Id: ENSP00000433166   ⟸   ENST00000531558
Ensembl Acc Id: ENSP00000431728   ⟸   ENST00000532041
Ensembl Acc Id: ENSP00000436958   ⟸   ENST00000532317
Ensembl Acc Id: ENSP00000435311   ⟸   ENST00000532603
Ensembl Acc Id: ENSP00000435499   ⟸   ENST00000534412
Ensembl Acc Id: ENSP00000436508   ⟸   ENST00000525162
Ensembl Acc Id: ENSP00000377015   ⟸   ENST00000393346
Ensembl Acc Id: ENSP00000433846   ⟸   ENST00000526033
Ensembl Acc Id: ENSP00000432976   ⟸   ENST00000526961
Ensembl Acc Id: ENSP00000487119   ⟸   ENST00000630913
Ensembl Acc Id: ENSP00000348718   ⟸   ENST00000356360
Ensembl Acc Id: ENSP00000434884   ⟸   ENST00000528398
Ensembl Acc Id: ENSP00000431545   ⟸   ENST00000528256
Ensembl Acc Id: ENSP00000435807   ⟸   ENST00000529760
Ensembl Acc Id: ENSP00000432509   ⟸   ENST00000529016
RefSeq Acc Id: XP_047283622   ⟸   XM_047427666
- Peptide Label: isoform X23
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283616   ⟸   XM_047427660
- Peptide Label: isoform X8
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283625   ⟸   XM_047427669
- Peptide Label: isoform X26
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283623   ⟸   XM_047427667
- Peptide Label: isoform X24
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283621   ⟸   XM_047427665
- Peptide Label: isoform X21
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283624   ⟸   XM_047427668
- Peptide Label: isoform X25
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283618   ⟸   XM_047427662
- Peptide Label: isoform X11
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283615   ⟸   XM_047427659
- Peptide Label: isoform X7
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283619   ⟸   XM_047427663
- Peptide Label: isoform X17
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283617   ⟸   XM_047427661
- Peptide Label: isoform X10
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397963   ⟸   NM_001411034
- Peptide Label: isoform 5
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226095   ⟸   XM_054370120
- Peptide Label: isoform X23
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226079   ⟸   XM_054370104
- Peptide Label: isoform X8
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226098   ⟸   XM_054370123
- Peptide Label: isoform X26
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226096   ⟸   XM_054370121
- Peptide Label: isoform X24
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226093   ⟸   XM_054370118
- Peptide Label: isoform X21
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226092   ⟸   XM_054370117
- Peptide Label: isoform X20
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226085   ⟸   XM_054370110
- Peptide Label: isoform X27
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226097   ⟸   XM_054370122
- Peptide Label: isoform X25
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226091   ⟸   XM_054370116
- Peptide Label: isoform X19
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226086   ⟸   XM_054370111
- Peptide Label: isoform X14
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226083   ⟸   XM_054370108
- Peptide Label: isoform X12
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226094   ⟸   XM_054370119
- Peptide Label: isoform X22
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226090   ⟸   XM_054370115
- Peptide Label: isoform X18
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226084   ⟸   XM_054370109
- Peptide Label: isoform X13
- UniProtKB: B5BU72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226082   ⟸   XM_054370107
- Peptide Label: isoform X11
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226078   ⟸   XM_054370103
- Peptide Label: isoform X7
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226076   ⟸   XM_054370101
- Peptide Label: isoform X5
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226089   ⟸   XM_054370114
- Peptide Label: isoform X17
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226081   ⟸   XM_054370106
- Peptide Label: isoform X10
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226075   ⟸   XM_054370100
- Peptide Label: isoform X4
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226088   ⟸   XM_054370113
- Peptide Label: isoform X16
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226080   ⟸   XM_054370105
- Peptide Label: isoform X9
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226077   ⟸   XM_054370102
- Peptide Label: isoform X6
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226074   ⟸   XM_054370099
- Peptide Label: isoform X3
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226087   ⟸   XM_054370112
- Peptide Label: isoform X15
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226073   ⟸   XM_054370098
- Peptide Label: isoform X2
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226072   ⟸   XM_054370097
- Peptide Label: isoform X1
- UniProtKB: A8K5U9 (UniProtKB/TrEMBL)
Protein Domains
ENTH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13492-F1-model_v2 AlphaFold Q13492 1-652 view protein structure

Promoters
RGD ID:6789230
Promoter ID:HG_KWN:13874
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001PBO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,396,521 - 85,397,021 (-)MPROMDB
RGD ID:6789231
Promoter ID:HG_KWN:13875
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000341783,   ENST00000349405,   ENST00000356360,   ENST00000393343,   ENST00000393346,   UC001PBN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,457,331 - 85,458,277 (-)MPROMDB
RGD ID:7221731
Promoter ID:EPDNEW_H16611
Type:initiation region
Name:PICALM_2
Description:phosphatidylinositol binding clathrin assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16612  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,068,857 - 86,068,917EPDNEW
RGD ID:7221733
Promoter ID:EPDNEW_H16612
Type:initiation region
Name:PICALM_1
Description:phosphatidylinositol binding clathrin assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16611  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,069,075 - 86,069,135EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15514 AgrOrtholog
COSMIC PICALM COSMIC
Ensembl Genes ENSG00000073921 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000356360 ENTREZGENE
  ENST00000356360.9 UniProtKB/Swiss-Prot
  ENST00000393346 ENTREZGENE
  ENST00000393346.8 UniProtKB/Swiss-Prot
  ENST00000526033 ENTREZGENE
  ENST00000526033.5 UniProtKB/Swiss-Prot
  ENST00000528398 ENTREZGENE
  ENST00000528398.5 UniProtKB/Swiss-Prot
  ENST00000532317 ENTREZGENE
  ENST00000532317.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.150 UniProtKB/Swiss-Prot
  1.25.40.90 UniProtKB/Swiss-Prot
GTEx ENSG00000073921 GTEx
HGNC ID HGNC:15514 ENTREZGENE
Human Proteome Map PICALM Human Proteome Map
InterPro ANTH_dom UniProtKB/Swiss-Prot
  AP180-like UniProtKB/Swiss-Prot
  Clathrin_AP_dom2 UniProtKB/Swiss-Prot
  ENTH UniProtKB/Swiss-Prot
  ENTH_VHS UniProtKB/Swiss-Prot
KEGG Report hsa:8301 UniProtKB/Swiss-Prot
NCBI Gene 8301 ENTREZGENE
OMIM 603025 OMIM
PANTHER PTHR22951 UniProtKB/Swiss-Prot
  PTHR22951:SF16 UniProtKB/Swiss-Prot
Pfam ANTH UniProtKB/Swiss-Prot
PharmGKB PA33287 PharmGKB
PROSITE ENTH UniProtKB/Swiss-Prot
SMART ENTH UniProtKB/Swiss-Prot
Superfamily-SCOP GAT-like domain UniProtKB/Swiss-Prot
  SSF48464 UniProtKB/Swiss-Prot
UniProt A8K5U9 ENTREZGENE, UniProtKB/TrEMBL
  B4DTM3 ENTREZGENE
  B5BU72 ENTREZGENE, UniProtKB/TrEMBL
  E9PI56_HUMAN UniProtKB/TrEMBL
  E9PJT1_HUMAN UniProtKB/TrEMBL
  E9PK13_HUMAN UniProtKB/TrEMBL
  E9PKP6_HUMAN UniProtKB/TrEMBL
  E9PLJ8_HUMAN UniProtKB/TrEMBL
  E9PN05 ENTREZGENE
  F8VPG7 ENTREZGENE
  H0YCY1_HUMAN UniProtKB/TrEMBL
  H0YD48_HUMAN UniProtKB/TrEMBL
  H0YE97_HUMAN UniProtKB/TrEMBL
  H0YEF7_HUMAN UniProtKB/TrEMBL
  H0YEH1_HUMAN UniProtKB/TrEMBL
  H0YEY8_HUMAN UniProtKB/TrEMBL
  L8ECD8_HUMAN UniProtKB/TrEMBL
  O60700 ENTREZGENE
  PICAL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4LE54 ENTREZGENE
  Q6GMQ6 ENTREZGENE
  Q86XZ9 ENTREZGENE
UniProt Secondary B4DTM3 UniProtKB/Swiss-Prot
  E9PN05 UniProtKB/Swiss-Prot
  F8VPG7 UniProtKB/Swiss-Prot
  O60700 UniProtKB/Swiss-Prot
  Q4LE54 UniProtKB/Swiss-Prot
  Q6GMQ6 UniProtKB/Swiss-Prot
  Q86XZ9 UniProtKB/Swiss-Prot