VAMP7 (vesicle associated membrane protein 7) - 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: VAMP7 (vesicle associated membrane protein 7) Homo sapiens
Analyze
Symbol: VAMP7
Name: vesicle associated membrane protein 7
RGD ID: 1350434
HGNC Page HGNC:11486
Description: Predicted to enable SNAP receptor activity and SNARE binding activity. Involved in several processes, including endosome to lysosome transport; leukocyte degranulation; and positive regulation of histamine secretion by mast cell. Located in several cellular components, including pseudopodium; secretory granule; and trans-Golgi network. Part of SNARE complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ53045; FLJ53762; FLJ54296; SYBL1; synaptobrevin-like 1; synaptobrevin-like protein 1; tetanus neurotoxin-insensitive VAMP; tetanus-insensitive VAMP; TI-VAMP; TIVAMP; VAMP-7; vesicle-associated membrane protein 7
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
GRCh38Y57,067,865 - 57,130,289 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,881,345 - 155,943,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX155,881,345 - 155,943,769 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblY57,067,865 - 57,130,289 (+)EnsemblGRCh38hg38GRCh38
GRCh37Y59,214,014 - 59,276,439 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X155,111,008 - 155,173,433 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,623,407 - 57,685,814 (+)NCBINCBI36Build 36hg18NCBI36
Build 36X154,764,207 - 154,826,614 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y57,552,143 - 57,614,551NCBI
CeleraX155,267,418 - 155,329,920 (+)NCBICelera
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,593,932 - 143,656,425 (+)NCBIHuRef
CHM1_1X155,022,569 - 155,085,064 (+)NCBICHM1_1
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal internal genitalia  (IAGP)
Abnormal labia morphology  (IAGP)
Abnormal scrotum morphology  (IAGP)
Abnormal sex determination  (IAGP)
Abnormal vagina morphology  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Adrenal insufficiency  (IAGP)
Ambiguous genitalia  (IAGP)
Autism  (IAGP)
Azoospermia  (IAGP)
Clitoral hypertrophy  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased fertility in females  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Female external genitalia in individual with 46,XY karyotype  (IAGP)
Gonadal dysgenesis  (IAGP)
Gonadoblastoma  (IAGP)
Gynecomastia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypospadias  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Male infertility  (IAGP)
Micropenis  (IAGP)
Nephroblastoma  (IAGP)
Nephrotic syndrome  (IAGP)
Osteoporosis  (IAGP)
Ovarian gonadoblastoma  (IAGP)
Primary amenorrhea  (IAGP)
Primary gonadal insufficiency  (IAGP)
Sparse axillary hair  (IAGP)
Sparse pubic hair  (IAGP)
Splenomegaly  (IAGP)
Streak ovary  (IAGP)
Testicular gonadoblastoma  (IAGP)
Urogenital sinus anomaly  (IAGP)
Vanishing testis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Overview of macroautophagy regulation in mammalian cells. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:6495485   PMID:8125298   PMID:8640232   PMID:9614185   PMID:10459012   PMID:10564831   PMID:10655549   PMID:10888671   PMID:11031247   PMID:11076863   PMID:11101518   PMID:11252894  
PMID:11278762   PMID:11440841   PMID:11786915   PMID:11840509   PMID:12175335   PMID:12444103   PMID:12477932   PMID:12853575   PMID:14672948   PMID:14993220   PMID:15133481   PMID:15470500  
PMID:15489334   PMID:15489336   PMID:15610015   PMID:16195891   PMID:16354670   PMID:16381901   PMID:16430921   PMID:16495485   PMID:16677249   PMID:17897319   PMID:18029348   PMID:18042464  
PMID:18253931   PMID:18362137   PMID:18571410   PMID:18775314   PMID:18819912   PMID:19056867   PMID:19138172   PMID:19451649   PMID:19557002   PMID:19745841   PMID:19781582   PMID:20144992  
PMID:20378544   PMID:21609427   PMID:21674799   PMID:21805468   PMID:21873635   PMID:22002060   PMID:22188132   PMID:22323709   PMID:22589474   PMID:22951367   PMID:23104059   PMID:23217169  
PMID:23217709   PMID:23322049   PMID:23471971   PMID:23741335   PMID:24173214   PMID:24550300   PMID:24807903   PMID:24880616   PMID:25046114   PMID:25999457   PMID:26186194   PMID:26279084  
PMID:26359495   PMID:26553929   PMID:26638075   PMID:26972000   PMID:27173435   PMID:27791468   PMID:28514442   PMID:28625976   PMID:29180619   PMID:29568061   PMID:30194290   PMID:30471916  
PMID:30639242   PMID:30833792   PMID:31073040   PMID:31251111   PMID:31447853   PMID:31871319   PMID:31995728   PMID:32423256   PMID:32614325   PMID:32622737   PMID:32913203   PMID:33112705  
PMID:33144569   PMID:33357422   PMID:33452816   PMID:33845483   PMID:33886957   PMID:33961781   PMID:34042162   PMID:34079125   PMID:34088337   PMID:34432599   PMID:34597346   PMID:34706264  
PMID:34709727   PMID:34821552   PMID:34882091   PMID:35082283   PMID:35256949   PMID:35271311   PMID:35337019   PMID:36215168   PMID:36610398   PMID:37774976   PMID:37827155   PMID:38139155  
PMID:38182888   PMID:38393934   PMID:38496616  


Genomics

Comparative Map Data
VAMP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y57,067,865 - 57,130,289 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,881,345 - 155,943,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX155,881,345 - 155,943,769 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblY57,067,865 - 57,130,289 (+)EnsemblGRCh38hg38GRCh38
GRCh37Y59,214,014 - 59,276,439 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X155,111,008 - 155,173,433 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,623,407 - 57,685,814 (+)NCBINCBI36Build 36hg18NCBI36
Build 36X154,764,207 - 154,826,614 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y57,552,143 - 57,614,551NCBI
CeleraX155,267,418 - 155,329,920 (+)NCBICelera
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,593,932 - 143,656,425 (+)NCBIHuRef
CHM1_1X155,022,569 - 155,085,064 (+)NCBICHM1_1
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBIT2T-CHM13v2.0
Vamp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic MapX NCBI
Vamp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81221,842,206 - 21,958,556 (+)NCBIGRCr8
mRatBN7.21216,728,486 - 16,764,261 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1216,728,524 - 16,764,097 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1217,566,927 - 17,592,992 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01218,190,658 - 18,216,722 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01217,244,056 - 17,270,121 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01218,996,566 - 19,033,714 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1218,996,591 - 19,030,381 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01220,989,825 - 21,090,967 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41217,248,700 - 17,278,193 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11217,238,221 - 17,267,715 (-)NCBI
Celera1218,674,387 - 18,700,778 (+)NCBICelera
Cytogenetic Map12q11NCBI
Vamp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495559418,727 - 72,654 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495559420,496 - 72,648 (-)NCBIChiLan1.0ChiLan1.0
VAMP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X155,861,375 - 155,924,093 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X155,864,983 - 155,927,704 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X145,362,432 - 145,425,097 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X155,257,593 - 155,320,215 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX155,257,185 - 155,320,215 (+)Ensemblpanpan1.1panPan2
VAMP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X123,717,524 - 123,783,781 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX123,717,446 - 123,783,014 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX108,704,682 - 108,769,242 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X126,855,012 - 126,919,587 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX126,855,027 - 126,919,572 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X122,587,142 - 122,652,219 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X125,109,846 - 125,174,616 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X124,840,976 - 124,905,504 (+)NCBIUU_Cfam_GSD_1.0
Vamp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X120,561,625 - 120,609,966 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936958345,055 - 393,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VAMP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,863,292 - 125,917,225 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,863,266 - 125,917,232 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
VAMP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,937,026 - 129,984,071 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX129,937,046 - 129,984,119 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606568,040,049 - 68,087,731 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vamp7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462498040,843 - 94,528 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462498040,937 - 94,547 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VAMP7
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Xq28(chrX:155678751-155951918)x0 copy number loss See cases [RCV000051074] ChrX:155678751..155951918 [GRCh38]
ChrX:154908412..155181583 [GRCh37]
ChrX:154561606..154834777 [NCBI36]
ChrX:Xq28		 likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:155678751-155951918)x1 copy number loss See cases [RCV000051075] ChrX:155678751..155951918 [GRCh38]
ChrX:154908412..155181583 [GRCh37]
ChrX:154561606..154834777 [NCBI36]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000050370] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq28(chrX:155348480-156016920)x3 copy number gain See cases [RCV000135266] ChrX:155348480..156016920 [GRCh38]
ChrX:154577793..155246585 [GRCh37]
ChrX:154230987..154899779 [NCBI36]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0 copy number loss See cases [RCV000135325] ChrY:12965721..57212647 [GRCh38]
ChrY:15077631..59358798 [GRCh37]
ChrY:13587025..57768186 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Yq12(chrY:56890578-57212647)x3 copy number gain See cases [RCV000134654] ChrY:56890578..57212647 [GRCh38]
ChrY:59036725..59358798 [GRCh37]
ChrY:57446113..57768186 [NCBI36]
ChrY:Yq12		 benign
GRCh38/hg38 Xq28(chrX:155745034-155996392)x0 copy number loss See cases [RCV000134861] ChrX:155745034..155996392 [GRCh38]
ChrX:154974696..155226057 [GRCh37]
ChrX:154627890..154879251 [NCBI36]
ChrX:Xq28		 benign
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13948013-57208726)x0 copy number loss See cases [RCV000135529] ChrY:13948013..57208726 [GRCh38]
ChrY:16059893..59354877 [GRCh37]
ChrY:14569287..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 copy number loss See cases [RCV000053517] ChrY:56903689..57208726 [GRCh38]
ChrY:59049836..59354877 [GRCh37]
ChrY:57459224..57764265 [NCBI36]
ChrY:Yq12		 benign|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:155745005-155978689)x0 copy number loss See cases [RCV000133784] ChrX:155745005..155978689 [GRCh38]
ChrX:154974667..155208354 [GRCh37]
ChrX:154627861..154861548 [NCBI36]
ChrX:Xq28		 benign
GRCh38/hg38 Xq28(chrX:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:155717169-156022206)x3 copy number gain See cases [RCV000054349] ChrX:155717169..156022206 [GRCh38]
ChrX:154946830..155251871 [GRCh37]
ChrX:154600024..154905065 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:155745005-155996431)x3 copy number gain See cases [RCV000054350] ChrX:155745005..155996431 [GRCh38]
ChrX:154974667..155226096 [GRCh37]
ChrX:154627861..154879290 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:155782123-155967288)x3 copy number gain See cases [RCV000054351] ChrX:155782123..155967288 [GRCh38]
ChrX:155011785..155196953 [GRCh37]
ChrX:154664979..154850147 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 copy number loss See cases [RCV000133870] ChrY:14076802..57165209 [GRCh38]
ChrY:16188682..59311360 [GRCh37]
ChrY:14698076..57720748 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xq28(chrX:155828359-155979369)x0 copy number loss See cases [RCV000051430] ChrX:155828359..155979369 [GRCh38]
ChrX:155058022..155209034 [GRCh37]
ChrX:154711216..154862228 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12586822-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|See cases [RCV000051768] ChrY:12586822..57208726 [GRCh38]
ChrY:14698756..59354877 [GRCh37]
ChrY:13208776..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:14025789..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0 copy number loss See cases [RCV000139941] ChrY:16311571..57190586 [GRCh38]
ChrY:18423451..59336737 [GRCh37]
ChrY:16932845..57746125 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xq28(chrX:155889104-156020513)x3 copy number gain See cases [RCV000140536] ChrX:155889104..156020513 [GRCh38]
ChrX:155118767..155250178 [GRCh37]
ChrX:154771961..154903372 [NCBI36]
ChrX:Xq28		 benign
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Xq28(chrX:155775219-156003242)x1 copy number loss See cases [RCV000141630] ChrX:155775219..156003242 [GRCh38]
ChrX:155004881..155232907 [GRCh37]
ChrX:154658075..154886101 [NCBI36]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 copy number loss See cases [RCV000141809] ChrY:10624004..57190586 [GRCh38]
ChrY:13134518..59336737 [GRCh37]
ChrY:11244518..57746125 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Yq12(chrY:56992525-57166951)x0 copy number loss See cases [RCV000142540] ChrY:56992525..57166951 [GRCh38]
ChrY:59138674..59313102 [GRCh37]
ChrY:57548062..57722490 [NCBI36]
ChrY:Yq12		 benign
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq28(chrX:155745034-156003229)x0 copy number loss See cases [RCV000142823] ChrX:155745034..156003229 [GRCh38]
ChrX:154974696..155232894 [GRCh37]
ChrX:154627890..154886088 [NCBI36]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xq28(chrX:155532532-156003229)x0 copy number loss See cases [RCV000143003] ChrX:155532532..156003229 [GRCh38]
ChrX:154762193..155232894 [GRCh37]
ChrX:154415387..154886088 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Yq12(chrY:56898727-57190586)x0 copy number loss See cases [RCV000143422] ChrY:56898727..57190586 [GRCh38]
ChrY:59044874..59336737 [GRCh37]
ChrY:57454262..57746125 [NCBI36]
ChrY:Yq12		 likely benign
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000148059] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 copy number loss See cases [RCV000148064] ChrY:56903689..57208726 [GRCh38]
ChrY:59049836..59354877 [GRCh37]
ChrY:57459224..57764265 [NCBI36]
ChrY:Yq12		 benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0 copy number loss See cases [RCV000135882] ChrY:15631816..57211010 [GRCh38]
ChrY:17743696..59357161 [GRCh37]
ChrY:16253090..57766549 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Yq12(chrY:56968643-57098882)x0 copy number loss See cases [RCV000136544] ChrY:56968643..57098882 [GRCh38]
ChrY:59114791..59245032 [GRCh37]
ChrY:57524179..57654420 [NCBI36]
ChrY:Yq12		 uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Yq12(chrY:56992525-57208726)x0 copy number loss See cases [RCV000136553] ChrY:56992525..57208726 [GRCh38]
ChrY:59138674..59354877 [GRCh37]
ChrY:57548062..57764265 [NCBI36]
ChrY:Yq12		 benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:155699559-156022206)x1 copy number loss See cases [RCV000136868] ChrX:155699559..156022206 [GRCh38]
ChrX:154929220..155251871 [GRCh37]
ChrX:154582414..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq28(chrX:155434676-156022206)x3 copy number gain See cases [RCV000137037] ChrX:155434676..156022206 [GRCh38]
ChrX:154664337..155251871 [GRCh37]
ChrX:154317531..154905065 [NCBI36]
ChrX:Xq28		 likely benign|uncertain significance
GRCh38/hg38 Yq11.23-12(chrY:26389936-57208726)x0 copy number loss See cases [RCV000137091] ChrY:26389936..57208726 [GRCh38]
ChrY:28536083..59354877 [GRCh37]
ChrY:26945471..57764265 [NCBI36]
ChrY:Yq11.23-12		 benign
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18545732-57189762)x0 copy number loss See cases [RCV000137556] ChrY:18545732..57189762 [GRCh38]
ChrY:20707618..59335913 [GRCh37]
ChrY:19167006..57745301 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq12(chrY:56931525-57189762)x0 copy number loss See cases [RCV000137729] ChrY:56931525..57189762 [GRCh38]
ChrY:59077673..59335913 [GRCh37]
ChrY:57487061..57745301 [NCBI36]
ChrY:Yq12		 benign
GRCh38/hg38 Xq28(chrX:155844642-156003242)x0 copy number loss See cases [RCV000137780] ChrX:155844642..156003242 [GRCh38]
ChrX:155074305..155232907 [GRCh37]
ChrX:154727499..154886101 [NCBI36]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:155800088-156003242)x1 copy number loss See cases [RCV000137967] ChrX:155800088..156003242 [GRCh38]
ChrX:155029751..155232907 [GRCh37]
ChrX:154682945..154886101 [NCBI36]
ChrX:Xq28		 benign
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq28(chrX:155509742-155960682)x1 copy number loss See cases [RCV000138108] ChrX:155509742..155960682 [GRCh38]
ChrX:154739403..155190347 [GRCh37]
ChrX:154392597..154843541 [NCBI36]
ChrX:Xq28		 likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:155348480-156003242)x3 copy number gain See cases [RCV000138670] ChrX:155348480..156003242 [GRCh38]
ChrX:154577793..155232907 [GRCh37]
ChrX:154230987..154886101 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0 copy number loss See cases [RCV000138875] ChrY:14062885..57189762 [GRCh38]
ChrY:16174765..59335913 [GRCh37]
ChrY:14684159..57745301 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
NM_005638.6(VAMP7):c.364G>A (p.Gly122Ser) single nucleotide variant not provided [RCV000979158] ChrX:155900518 [GRCh38]
ChrY:57087038 [GRCh38]
ChrX:155130182 [GRCh37]
ChrY:59233188 [GRCh37]
ChrX:Xq28
ChrY:Yq12		 likely benign
NM_005638.6(VAMP7):c.573T>C (p.Ile191=) single nucleotide variant VAMP7-related disorder [RCV003895404]|not provided [RCV000880306] ChrX:155939772 [GRCh38]
ChrY:57126292 [GRCh38]
ChrX:155169436 [GRCh37]
ChrY:59272442 [GRCh37]
ChrX:Xq28
ChrY:Yq12		 likely benign
NM_005638.6(VAMP7):c.585C>T (p.Ile195=) single nucleotide variant not provided [RCV003312790] ChrX:155939784 [GRCh38]
ChrY:57126304 [GRCh38]
ChrX:155169448 [GRCh37]
ChrY:59272454 [GRCh37]
ChrX:Xq28
ChrY:Yq12		 likely benign
NM_005638.6(VAMP7):c.327C>G (p.Val109=) single nucleotide variant not provided [RCV000958378] ChrX:155898234 [GRCh38]
ChrY:57084754 [GRCh38]
ChrX:155127898 [GRCh37]
ChrY:59230904 [GRCh37]
ChrX:Xq28
ChrY:Yq12		 benign
NM_005638.6(VAMP7):c.380T>C (p.Met127Thr) single nucleotide variant not provided [RCV000895187] ChrX:155900534 [GRCh38]
ChrY:57087054 [GRCh38]
ChrX:155130198 [GRCh37]
ChrY:59233204 [GRCh37]
ChrX:Xq28
ChrY:Yq12		 benign
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 pathogenic
NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del deletion not provided [RCV001839140] ChrX:154656872..156005236 [GRCh38]
ChrX:Xq28		 pathogenic
NM_005638.6(VAMP7):c.595-10G>C single nucleotide variant VAMP7-related disorder [RCV003904728] ChrX:155941873 [GRCh38]
ChrY:57128393 [GRCh38]
ChrX:155171537 [GRCh37]
ChrY:59274543 [GRCh37]
ChrX:Xq28
ChrY:Yq12		 benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2808
Count of miRNA genes:1056
Interacting mature miRNAs:1281
Transcripts:ENST00000262640, ENST00000286448, ENST00000460621, ENST00000463317, ENST00000479687, ENST00000488344
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH70940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X155,171,667 - 155,171,827UniSTSGRCh37
GRCh37Y59,274,673 - 59,274,833UniSTSGRCh37
Build 36X154,824,861 - 154,825,021RGDNCBI36
CeleraX155,328,154 - 155,328,314RGD
Cytogenetic MapYq12UniSTS
Cytogenetic MapXq28UniSTS
HuRefX143,654,659 - 143,654,819UniSTS
GDB:451553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X155,172,418 - 155,172,565UniSTSGRCh37
GRCh37Y59,275,424 - 59,275,571UniSTSGRCh37
Build 36X154,825,612 - 154,825,759RGDNCBI36
CeleraX155,328,905 - 155,329,052RGD
Cytogenetic MapYq12UniSTS
Cytogenetic MapXq28UniSTS
HuRefX143,655,410 - 143,655,557UniSTS
UniSTS:154379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,241,109 - 59,241,317UniSTSGRCh37
GRCh37X155,138,103 - 155,138,311UniSTSGRCh37
Build 36X154,791,297 - 154,791,505RGDNCBI36
CeleraX155,294,581 - 155,294,791RGD
HuRefX143,621,099 - 143,621,311UniSTS
SYBL1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,230,795 - 59,230,913UniSTSGRCh37
GRCh37X155,127,789 - 155,127,907UniSTSGRCh37
CeleraX155,284,263 - 155,284,381UniSTS
HuRefX143,610,782 - 143,610,900UniSTS


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 2438 2788 2247 4964 1725 2345 5 622 1948 464 2269 7290 6458 52 3728 849 1738 1612 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI042181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI522002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ004799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ549301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP086569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262640   ⟹   ENSP00000262640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX155,881,375 - 155,943,769 (+)Ensembl
Ensembl Acc Id: ENST00000286448   ⟹   ENSP00000286448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX155,881,345 - 155,943,769 (+)Ensembl
Ensembl Acc Id: ENST00000460621   ⟹   ENSP00000427822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX155,881,378 - 155,941,989 (+)Ensembl
Ensembl Acc Id: ENST00000463317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX155,881,372 - 155,939,790 (+)Ensembl
Ensembl Acc Id: ENST00000479687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX155,881,358 - 155,941,909 (+)Ensembl
Ensembl Acc Id: ENST00000488344   ⟹   ENSP00000430039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX155,881,360 - 155,941,944 (+)Ensembl
Ensembl Acc Id: ENST00000711260   ⟹   ENSP00000518622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY57,067,865 - 57,130,289 (+)Ensembl
Ensembl Acc Id: ENST00000711261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY57,067,878 - 57,128,429 (+)Ensembl
Ensembl Acc Id: ENST00000711262   ⟹   ENSP00000518621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY57,067,880 - 57,128,464 (+)Ensembl
Ensembl Acc Id: ENST00000711263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY57,067,892 - 57,126,310 (+)Ensembl
Ensembl Acc Id: ENST00000711264   ⟹   ENSP00000518620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY57,067,895 - 57,130,289 (+)Ensembl
Ensembl Acc Id: ENST00000711265   ⟹   ENSP00000518619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY57,067,898 - 57,128,509 (+)Ensembl
RefSeq Acc Id: NM_001145149   ⟹   NP_001138621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185183   ⟹   NP_001172112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005638   ⟹   NP_005629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
Build 36X154,764,207 - 154,826,614 (+)NCBI Archive
Build 36Y57,623,407 - 57,685,814 (+)NCBI Archive
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033714
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033715
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531188   ⟹   XP_011529490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545653   ⟹   XP_011543955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029760   ⟹   XP_016885249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030063   ⟹   XP_016885552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054327626   ⟹   XP_054183601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
RefSeq Acc Id: XM_054327627   ⟹   XP_054183602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X154,109,337 - 154,171,772 (+)NCBI
RefSeq Acc Id: XM_054328322   ⟹   XP_054184297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y62,310,591 - 62,368,760 (+)NCBI
RefSeq Acc Id: XM_054328323   ⟹   XP_054184298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y62,310,545 - 62,368,760 (+)NCBI
RefSeq Acc Id: XM_054328324   ⟹   XP_054184299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
RefSeq Acc Id: XM_054328325   ⟹   XP_054184300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y62,306,325 - 62,368,760 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001138621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172112 (Get FASTA)   NCBI Sequence Viewer  
  NP_005629 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529490 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543955 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885249 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183601 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183602 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184299 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184300 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH56141 (Get FASTA)   NCBI Sequence Viewer  
  BAD96514 (Get FASTA)   NCBI Sequence Viewer  
  BAG35541 (Get FASTA)   NCBI Sequence Viewer  
  BAG57007 (Get FASTA)   NCBI Sequence Viewer  
  BAG58491 (Get FASTA)   NCBI Sequence Viewer  
  BAG59826 (Get FASTA)   NCBI Sequence Viewer  
  CAA63133 (Get FASTA)   NCBI Sequence Viewer  
  CAB96816 (Get FASTA)   NCBI Sequence Viewer  
  CAC16891 (Get FASTA)   NCBI Sequence Viewer  
  CAD70593 (Get FASTA)   NCBI Sequence Viewer  
  EAW55877 (Get FASTA)   NCBI Sequence Viewer  
  EAW55878 (Get FASTA)   NCBI Sequence Viewer  
  EAW55879 (Get FASTA)   NCBI Sequence Viewer  
  EAW55880 (Get FASTA)   NCBI Sequence Viewer  
  EAW55881 (Get FASTA)   NCBI Sequence Viewer  
  EAW55882 (Get FASTA)   NCBI Sequence Viewer  
  EAW55883 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262640
  ENSP00000262640.6
  ENSP00000286448
  ENSP00000286448.6
  ENSP00000427822
  ENSP00000427822.1
  ENSP00000430039.1
  ENSP00000518619
  ENSP00000518619.1
  ENSP00000518620
  ENSP00000518620.1
  ENSP00000518621.1
  ENSP00000518622
  ENSP00000518622.1
GenBank Protein P51809 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005629   ⟸   NM_005638
- Peptide Label: isoform 1
- UniProtKB: Q7Z409 (UniProtKB/Swiss-Prot),   Q53GY7 (UniProtKB/Swiss-Prot),   Q9H4A7 (UniProtKB/Swiss-Prot),   P51809 (UniProtKB/Swiss-Prot),   B2R6P4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001172112   ⟸   NM_001185183
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001138621   ⟸   NM_001145149
- Peptide Label: isoform 2
- UniProtKB: B4DE96 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543955   ⟸   XM_011545653
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529490   ⟸   XM_011531188
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885552   ⟸   XM_017030063
- Peptide Label: isoform X2
- UniProtKB: B4DE96 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885249   ⟸   XM_017029760
- Peptide Label: isoform X2
- UniProtKB: B4DE96 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000286448   ⟸   ENST00000286448
Ensembl Acc Id: ENSP00000262640   ⟸   ENST00000262640
Ensembl Acc Id: ENSP00000430039   ⟸   ENST00000488344
Ensembl Acc Id: ENSP00000427822   ⟸   ENST00000460621
RefSeq Acc Id: XP_054183602   ⟸   XM_054327627
- Peptide Label: isoform X2
- UniProtKB: B4DE96 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183601   ⟸   XM_054327626
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184300   ⟸   XM_054328325
- Peptide Label: isoform X2
- UniProtKB: B4DE96 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184299   ⟸   XM_054328324
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184298   ⟸   XM_054328323
- Peptide Label: isoform X4
- UniProtKB: Q7Z409 (UniProtKB/Swiss-Prot),   Q53GY7 (UniProtKB/Swiss-Prot),   P51809 (UniProtKB/Swiss-Prot),   Q9H4A7 (UniProtKB/Swiss-Prot),   B2R6P4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184297   ⟸   XM_054328322
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000518622   ⟸   ENST00000711260
Ensembl Acc Id: ENSP00000518619   ⟸   ENST00000711265
Ensembl Acc Id: ENSP00000518621   ⟸   ENST00000711262
Ensembl Acc Id: ENSP00000518620   ⟸   ENST00000711264
Protein Domains
Longin   v-SNARE coiled-coil homology

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51809-F1-model_v2 AlphaFold P51809 1-220 view protein structure

Promoters
RGD ID:13628716
Promoter ID:EPDNEW_H29596
Type:initiation region
Name:VAMP7_1
Description:vesicle associated membrane protein 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,881,405EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11486 AgrOrtholog
COSMIC VAMP7 COSMIC
Ensembl Genes ENSG00000124333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292366 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262640 ENTREZGENE
  ENST00000262640.11 UniProtKB/Swiss-Prot
  ENST00000286448 ENTREZGENE
  ENST00000286448.12 UniProtKB/Swiss-Prot
  ENST00000460621 ENTREZGENE
  ENST00000460621.6 UniProtKB/Swiss-Prot
  ENST00000488344.6 UniProtKB/TrEMBL
  ENST00000711260 ENTREZGENE
  ENST00000711260.1 UniProtKB/Swiss-Prot
  ENST00000711262.1 UniProtKB/TrEMBL
  ENST00000711264 ENTREZGENE
  ENST00000711264.1 UniProtKB/Swiss-Prot
  ENST00000711265 ENTREZGENE
  ENST00000711265.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124333 GTEx
  ENSG00000292366 GTEx
HGNC ID HGNC:11486 ENTREZGENE
Human Proteome Map VAMP7 Human Proteome Map
InterPro Longin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin-like_transport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6845 UniProtKB/Swiss-Prot
NCBI Gene 6845 ENTREZGENE
OMIM 300053 OMIM
PANTHER SNARE PROTEINS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VESICLE-ASSOCIATED MEMBRANE PROTEIN 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VESICLE-ASSOCIATED MEMBRANE PROTEIN 7 UniProtKB/TrEMBL
Pfam Longin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162408786 PharmGKB
PRINTS SYNAPTOBREVN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LONGIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOBREVIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Longin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SNARE fusion complex UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R6P4 ENTREZGENE, UniProtKB/TrEMBL
  B4DE96 ENTREZGENE, UniProtKB/TrEMBL
  E5RH06_HUMAN UniProtKB/TrEMBL
  P51809 ENTREZGENE
  Q53GY7 ENTREZGENE
  Q7Z409 ENTREZGENE
  Q9H4A7 ENTREZGENE
  VAMP7_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q53GY7 UniProtKB/Swiss-Prot
  Q7Z409 UniProtKB/Swiss-Prot
  Q9H4A7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 VAMP7  vesicle associated membrane protein 7    vesicle-associated membrane protein 7  Symbol and/or name change 5135510 APPROVED