SVIP (small VCP interacting protein) - Rat Genome Database

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Gene: SVIP (small VCP interacting protein) Homo sapiens
Analyze
Symbol: SVIP
Name: small VCP interacting protein
RGD ID: 2306136
HGNC Page HGNC
Description: Enables ATPase binding activity and protein self-association. Involved in several processes, including negative regulation of retrograde protein transport, ER to cytosol; positive regulation of protein lipidation; and regulation of cellular catabolic process. Located in endoplasmic reticulum membrane. Is anchored component of membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp313A2432
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1122,813,799 - 22,830,299 (-)EnsemblGRCh38hg38GRCh38
GRCh381122,812,429 - 22,829,865 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371122,840,473 - 22,851,347 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,800,174 - 22,807,958 (-)NCBINCBI36hg18NCBI36
Celera1122,977,457 - 22,985,238 (-)NCBI
Cytogenetic Map11p14.3NCBI
HuRef1122,527,002 - 22,534,781 (-)NCBIHuRef
CHM1_11122,842,910 - 22,850,689 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

References - curated
1. Pipeline to import KEGG annotations from KEGG into RGD
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:12529442   PMID:14702039   PMID:16344560   PMID:17872946   PMID:18793143   PMID:19615732   PMID:20458337   PMID:21546767   PMID:21873635   PMID:21909394   PMID:21914798  
PMID:23376485   PMID:24055875   PMID:24100225   PMID:25085501   PMID:25660456   PMID:26186194   PMID:27432908   PMID:28301499   PMID:28514442   PMID:30683843   PMID:32296183   PMID:33479240  


Genomics

Comparative Map Data
SVIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1122,813,799 - 22,830,299 (-)EnsemblGRCh38hg38GRCh38
GRCh381122,812,429 - 22,829,865 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371122,840,473 - 22,851,347 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,800,174 - 22,807,958 (-)NCBINCBI36hg18NCBI36
Celera1122,977,457 - 22,985,238 (-)NCBI
Cytogenetic Map11p14.3NCBI
HuRef1122,527,002 - 22,534,781 (-)NCBIHuRef
CHM1_11122,842,910 - 22,850,689 (-)NCBICHM1_1
Svip
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39751,646,909 - 51,655,766 (-)NCBIGRCm39mm39
GRCm39 Ensembl751,646,919 - 51,655,766 (-)Ensembl
GRCm38751,997,161 - 52,006,018 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl751,997,171 - 52,006,018 (-)EnsemblGRCm38mm10GRCm38
MGSCv37759,252,531 - 59,261,388 (-)NCBIGRCm37mm9NCBIm37
Celera749,368,103 - 49,376,978 (-)NCBICelera
Cytogenetic Map7B4NCBI
Svip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21101,587,128 - 101,592,818 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1101,587,128 - 101,593,116 (-)Ensembl
Rnor_6.01107,368,117 - 107,373,807 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1107,368,117 - 107,373,807 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01108,409,749 - 108,415,439 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41101,803,004 - 101,808,688 (-)NCBIRGSC3.4rn4RGSC3.4
Celera195,753,801 - 95,759,491 (-)NCBICelera
Cytogenetic Map1q22NCBI
Svip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554763,231,789 - 3,236,602 (-)NCBIChiLan1.0ChiLan1.0
SVIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11122,726,818 - 22,744,558 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1122,735,361 - 22,744,558 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01122,828,321 - 22,837,536 (-)NCBIMhudiblu_PPA_v0panPan3
SVIP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12144,408,467 - 44,418,160 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2144,408,474 - 44,415,739 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2143,883,618 - 43,892,770 (-)NCBI
ROS_Cfam_1.02145,527,466 - 45,536,601 (-)NCBI
UMICH_Zoey_3.12144,525,444 - 44,534,597 (-)NCBI
UNSW_CanFamBas_1.02144,697,938 - 44,707,116 (-)NCBI
UU_Cfam_GSD_1.02145,091,481 - 45,100,671 (-)NCBI
LOC101964419
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494740,467,407 - 40,473,548 (+)NCBI
SpeTri2.0NW_0049366543,452,781 - 3,459,161 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SVIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1236,703,757 - 36,714,018 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2239,934,313 - 39,958,613 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103238741
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1142,185,115 - 42,193,121 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl142,185,121 - 42,195,006 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038139,489,520 - 139,499,156 (+)NCBIVero_WHO_p1.0
Svip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476613,724,052 - 13,751,774 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-64301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,208 - 22,842,318UniSTSGRCh37
Build 361122,798,784 - 22,798,894RGDNCBI36
Celera1122,976,067 - 22,976,177RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,525,612 - 22,525,722UniSTS
TNG Radiation Hybrid Map1110953.0UniSTS
SHGC-33590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,177 - 22,842,303UniSTSGRCh37
Build 361122,798,753 - 22,798,879RGDNCBI36
Celera1122,976,036 - 22,976,162RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,525,581 - 22,525,707UniSTS
TNG Radiation Hybrid Map1110946.0UniSTS
Stanford-G3 RH Map111095.0UniSTS
NCBI RH Map11144.8UniSTS
GeneMap99-G3 RH Map111095.0UniSTS
RH70384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,209 - 22,842,350UniSTSGRCh37
Build 361122,798,785 - 22,798,926RGDNCBI36
Celera1122,976,068 - 22,976,209RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,525,613 - 22,525,754UniSTS
D11S947E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,768 - 22,842,881UniSTSGRCh37
GRCh371122,842,874 - 22,842,993UniSTSGRCh37
Build 361122,799,450 - 22,799,569RGDNCBI36
Celera1122,976,733 - 22,976,852RGD
Celera1122,976,627 - 22,976,740UniSTS
Cytogenetic Map11p14.2UniSTS
HuRef1122,526,278 - 22,526,397UniSTS
HuRef1122,526,172 - 22,526,285UniSTS
Stanford-G3 RH Map111099.0UniSTS
NCBI RH Map11145.3UniSTS
GeneMap99-G3 RH Map111099.0UniSTS
SHGC-538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,768 - 22,842,998UniSTSGRCh37
Build 361122,799,344 - 22,799,574RGDNCBI36
Celera1122,976,627 - 22,976,857RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,526,172 - 22,526,402UniSTS
TNG Radiation Hybrid Map1110969.0UniSTS
A006S18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,755 - 22,842,964UniSTSGRCh37
Build 361122,799,331 - 22,799,540RGDNCBI36
Celera1122,976,614 - 22,976,823RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,526,159 - 22,526,368UniSTS
GeneMap99-GB4 RH Map1181.66UniSTS
A009C18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,266 - 22,842,380UniSTSGRCh37
Build 361122,798,842 - 22,798,956RGDNCBI36
Celera1122,976,125 - 22,976,239RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,525,670 - 22,525,784UniSTS
GeneMap99-GB4 RH Map1181.66UniSTS
WI-13884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,746 - 22,842,895UniSTSGRCh37
Build 361122,799,322 - 22,799,471RGDNCBI36
Celera1122,976,605 - 22,976,754RGD
Cytogenetic Map11p14.2UniSTS
HuRef1122,526,150 - 22,526,299UniSTS
GeneMap99-GB4 RH Map1181.06UniSTS
Whitehead-RH Map1169.7UniSTS
G32414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,842,266 - 22,842,380UniSTSGRCh37
Celera1122,976,125 - 22,976,239UniSTS
Cytogenetic Map11p14.2UniSTS
HuRef1122,525,670 - 22,525,784UniSTS
D11S947E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p14.2UniSTS
Stanford-G3 RH Map111099.0UniSTS
NCBI RH Map11145.3UniSTS
GeneMap99-G3 RH Map111099.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1627
Count of miRNA genes:890
Interacting mature miRNAs:1045
Transcripts:ENST00000354193, ENST00000525670, ENST00000529848, ENST00000530199, ENST00000533774
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 810 1090 1036 167 783 71 1536 356 2917 288 1085 1131 99 24 1293 1
Low 1621 1882 686 456 1121 393 2816 1834 790 127 350 473 65 1180 1495 3 1
Below cutoff 2 13 2 35 2 15 2 14 5 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001320340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA347778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF527534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF219509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG531443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI826588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA306370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB135755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB466086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354193   ⟹   ENSP00000346130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1122,818,927 - 22,829,801 (-)Ensembl
RefSeq Acc Id: ENST00000525670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1122,813,799 - 22,827,877 (-)Ensembl
RefSeq Acc Id: ENST00000529848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1122,827,245 - 22,830,299 (-)Ensembl
RefSeq Acc Id: ENST00000530199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1122,822,867 - 22,829,373 (-)Ensembl
RefSeq Acc Id: ENST00000533774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1122,822,747 - 22,829,571 (-)Ensembl
RefSeq Acc Id: NM_001320340   ⟹   NP_001307269
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,820,263 - 22,829,571 (-)NCBI
CHM1_11122,841,121 - 22,850,424 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320341   ⟹   NP_001307270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,820,298 - 22,829,801 (-)NCBI
CHM1_11122,841,121 - 22,850,715 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320342   ⟹   NP_001307271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,820,298 - 22,829,801 (-)NCBI
CHM1_11122,841,121 - 22,850,715 (-)NCBI
Sequence:
RefSeq Acc Id: NM_148893   ⟹   NP_683691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,818,927 - 22,829,801 (-)NCBI
GRCh371122,843,598 - 22,851,382 (-)RGD
Build 361122,800,174 - 22,807,958 (-)NCBI Archive
Celera1122,977,457 - 22,985,238 (-)RGD
HuRef1122,527,002 - 22,534,781 (-)ENTREZGENE
CHM1_11122,841,121 - 22,850,715 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135213
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,820,263 - 22,829,379 (-)NCBI
CHM1_11122,841,121 - 22,850,232 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448423   ⟹   XP_024304191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,812,429 - 22,829,865 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_683691   ⟸   NM_148893
- Peptide Label: isoform 3
- UniProtKB: Q8NHG7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307270   ⟸   NM_001320341
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001307271   ⟸   NM_001320342
- Peptide Label: isoform 4
- UniProtKB: Q8NHG7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307269   ⟸   NM_001320340
- Peptide Label: isoform 1
- UniProtKB: Q8NHG7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304191   ⟸   XM_024448423
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000346130   ⟸   ENST00000354193

Promoters
RGD ID:6789414
Promoter ID:HG_KWN:12501
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_148893
Position:
Human AssemblyChrPosition (strand)Source
Build 361122,807,626 - 22,808,126 (-)MPROMDB
RGD ID:7219869
Promoter ID:EPDNEW_H15680
Type:initiation region
Name:SVIP_1
Description:small VCP interacting protein
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
GRCh381122,829,801 - 22,829,861EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12
pathogenic
GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1 copy number loss See cases [RCV000052647] Chr11:22115602..25375696 [GRCh38]
Chr11:22137148..25397242 [GRCh37]
Chr11:22093724..25353818 [NCBI36]
Chr11:11p14.3
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3 copy number gain See cases [RCV000137849] Chr11:21838014..26738627 [GRCh38]
Chr11:21859560..26760174 [GRCh37]
Chr11:21816136..26716750 [NCBI36]
Chr11:11p15.1-14.2
uncertain significance
GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1 copy number loss See cases [RCV000140704] Chr11:22195749..22953436 [GRCh38]
Chr11:22217295..22974982 [GRCh37]
Chr11:22173871..22931558 [NCBI36]
Chr11:11p14.3
uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3 copy number gain Ductal breast carcinoma [RCV000207141] Chr11:22646794..22851268 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3 copy number gain not provided [RCV000585511] Chr11:22026376..23809369 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
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 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p14.3(chr11:22668315-23047939)x1 copy number loss not provided [RCV000848209] Chr11:22668315..23047939 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13
pathogenic
GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3 copy number gain not provided [RCV001006395] Chr11:22290214..23743998 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22835331-23275932)x3 copy number gain not provided [RCV001006396] Chr11:22835331..23275932 [GRCh37]
Chr11:11p14.3
likely benign|uncertain significance
GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4 copy number gain not provided [RCV000847535] Chr11:21370750..23441691 [GRCh37]
Chr11:11p15.1-14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22619798-23441691)x1 copy number loss not provided [RCV000846067] Chr11:22619798..23441691 [GRCh37]
Chr11:11p14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25238 AgrOrtholog
COSMIC SVIP COSMIC
Ensembl Genes ENSG00000198168 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000346130 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354193 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000198168 GTEx
HGNC ID HGNC:25238 ENTREZGENE
Human Proteome Map SVIP Human Proteome Map
InterPro SVIP UniProtKB/Swiss-Prot
KEGG Report hsa:258010 UniProtKB/Swiss-Prot
NCBI Gene 258010 ENTREZGENE
PANTHER PTHR35269 UniProtKB/Swiss-Prot
Pfam SVIP UniProtKB/Swiss-Prot
PharmGKB PA164726394 PharmGKB
UniProt Q8NHG7 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 SVIP  small VCP interacting protein    small VCP/p97-interacting protein  Symbol and/or name change 5135510 APPROVED