CHMP7 (charged multivesicular body protein 7) - Rat Genome Database

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Gene: CHMP7 (charged multivesicular body protein 7) Homo sapiens
Analyze
Symbol: CHMP7
Name: charged multivesicular body protein 7
RGD ID: 1602310
HGNC Page HGNC
Description: Involved in several processes, including late endosome to vacuole transport; midbody abscission; and mitotic nuclear division. Located in cytosol; nuclear envelope; and nucleoplasm. Part of ESCRT III complex. Colocalizes with chromatin; INTERACTS WITH acrolein; alpha-pinene; aristolochic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CHMP family, member 7; chromatin-modifying protein 7; MGC29816
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 Ensembl823,243,637 - 23,262,000 (+)EnsemblGRCh38hg38GRCh38
GRCh38823,243,637 - 23,262,000 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37823,101,150 - 23,119,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,157,114 - 23,175,452 (+)NCBINCBI36hg18NCBI36
Celera822,063,710 - 22,082,082 (+)NCBI
Cytogenetic Map8p21.3NCBI
HuRef821,647,093 - 21,665,477 (+)NCBIHuRef
CHM1_1823,303,281 - 23,321,650 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11031247   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16856878   PMID:16964243   PMID:17711858   PMID:18029348   PMID:19773279   PMID:20588296  
PMID:20616062   PMID:20732625   PMID:21516116   PMID:21873635   PMID:22658674   PMID:25496667   PMID:26040712   PMID:26344197   PMID:26638075   PMID:26673895   PMID:27618263   PMID:28242692  
PMID:29395067   PMID:29568061   PMID:30194290   PMID:30837566   PMID:31056421   PMID:31147383   PMID:31391242   PMID:32271860   PMID:32814053   PMID:32877691   PMID:32994395   PMID:33159045  
PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
CHMP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl823,243,637 - 23,262,000 (+)EnsemblGRCh38hg38GRCh38
GRCh38823,243,637 - 23,262,000 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37823,101,150 - 23,119,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,157,114 - 23,175,452 (+)NCBINCBI36hg18NCBI36
Celera822,063,710 - 22,082,082 (+)NCBI
Cytogenetic Map8p21.3NCBI
HuRef821,647,093 - 21,665,477 (+)NCBIHuRef
CHM1_1823,303,281 - 23,321,650 (+)NCBICHM1_1
Chmp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391469,954,428 - 69,970,019 (-)NCBIGRCm39mm39
GRCm39 Ensembl1469,954,449 - 69,969,990 (-)Ensembl
GRCm381469,716,979 - 69,732,570 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1469,717,000 - 69,732,541 (-)EnsemblGRCm38mm10GRCm38
MGSCv371470,116,786 - 70,132,377 (-)NCBIGRCm37mm9NCBIm37
MGSCv361468,452,080 - 68,467,614 (-)NCBImm8
Celera1467,252,612 - 67,268,203 (-)NCBICelera
Cytogenetic Map14D2NCBI
Chmp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21544,790,983 - 44,806,216 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1551,385,386 - 51,400,606 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01551,385,373 - 51,400,606 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01555,113,115 - 55,128,348 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41550,089,037 - 50,104,270 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11550,105,793 - 50,120,126 (-)NCBI
Celera1544,473,322 - 44,488,549 (-)NCBICelera
Cytogenetic Map15p11NCBI
Chmp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540346,467,463 - 46,478,897 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540346,467,463 - 46,478,897 (+)NCBIChiLan1.0ChiLan1.0
CHMP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1819,434,829 - 19,450,221 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl819,434,829 - 19,450,221 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0822,497,479 - 22,513,005 (+)NCBIMhudiblu_PPA_v0panPan3
CHMP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12534,242,671 - 34,257,268 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2534,244,022 - 34,257,211 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2534,831,063 - 34,845,646 (-)NCBI
ROS_Cfam_1.02534,450,366 - 34,464,948 (-)NCBI
UMICH_Zoey_3.12534,397,147 - 34,411,728 (-)NCBI
UNSW_CanFamBas_1.02534,252,148 - 34,266,725 (-)NCBI
UU_Cfam_GSD_1.02534,407,145 - 34,421,732 (-)NCBI
Chmp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494311,812,697 - 11,824,859 (-)NCBI
SpeTri2.0NW_0049365556,730,284 - 6,757,816 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHMP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl147,390,061 - 7,403,654 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1147,390,066 - 7,403,657 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CHMP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1821,370,334 - 21,390,036 (+)NCBI
ChlSab1.1 Ensembl821,373,968 - 21,387,698 (+)Ensembl
Vero_WHO_p1.0NW_02366605220,832,656 - 20,852,337 (-)NCBI
Chmp7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475818,524,338 - 18,538,909 (+)NCBI

Position Markers
STS-W49732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,119,236 - 23,119,393UniSTSGRCh37
Build 36823,175,181 - 23,175,338RGDNCBI36
Celera822,081,806 - 22,081,963RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,665,201 - 21,665,358UniSTS
GeneMap99-GB4 RH Map8102.3UniSTS
SHGC-112620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,111,198 - 23,111,469UniSTSGRCh37
Build 36823,167,143 - 23,167,414RGDNCBI36
Celera822,073,763 - 22,074,034RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,657,158 - 21,657,429UniSTS
TNG Radiation Hybrid Map812320.0UniSTS
MARC_14383-14384:1007138470:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,117,789 - 23,118,335UniSTSGRCh37
Build 36823,173,734 - 23,174,280RGDNCBI36
Celera822,080,359 - 22,080,905RGD
HuRef821,663,754 - 21,664,300UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3896
Count of miRNA genes:1019
Interacting mature miRNAs:1253
Transcripts:ENST00000313219, ENST00000397677, ENST00000517325, ENST00000519414, ENST00000519503, ENST00000519529, ENST00000519984, ENST00000520102, ENST00000521656, ENST00000523091
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2409 2538 1487 384 1693 229 4340 2034 3012 369 1445 1610 171 1 1200 2774 5 2
Low 30 453 239 240 258 236 17 163 722 50 15 3 4 4 14 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC100861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL515436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA416165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA773200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB140277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313219   ⟹   ENSP00000324491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,246,091 - 23,261,999 (+)Ensembl
RefSeq Acc Id: ENST00000397677   ⟹   ENSP00000380794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,243,637 - 23,261,999 (+)Ensembl
RefSeq Acc Id: ENST00000517325   ⟹   ENSP00000430321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,246,642 - 23,261,992 (+)Ensembl
RefSeq Acc Id: ENST00000519414   ⟹   ENSP00000428233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,246,637 - 23,256,563 (+)Ensembl
RefSeq Acc Id: ENST00000519503   ⟹   ENSP00000427948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,246,666 - 23,258,830 (+)Ensembl
RefSeq Acc Id: ENST00000519529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,246,659 - 23,258,491 (+)Ensembl
RefSeq Acc Id: ENST00000519984   ⟹   ENSP00000430661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,246,659 - 23,255,365 (+)Ensembl
RefSeq Acc Id: ENST00000520102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,256,603 - 23,260,286 (+)Ensembl
RefSeq Acc Id: ENST00000521656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,259,893 - 23,260,587 (+)Ensembl
RefSeq Acc Id: ENST00000523091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,254,806 - 23,262,000 (+)Ensembl
RefSeq Acc Id: NM_001317899   ⟹   NP_001304828
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,246,641 - 23,261,999 (+)NCBI
CHM1_1823,306,234 - 23,321,651 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363183   ⟹   NP_001350112
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,246,641 - 23,261,999 (+)NCBI
RefSeq Acc Id: NM_152272   ⟹   NP_689485
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,637 - 23,261,999 (+)NCBI
GRCh37823,101,150 - 23,119,512 (+)RGD
Build 36823,157,114 - 23,175,452 (+)NCBI Archive
Celera822,063,710 - 22,082,082 (+)RGD
HuRef821,647,093 - 21,665,477 (+)RGD
CHM1_1823,303,281 - 23,321,651 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013961   ⟹   XP_016869450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,246,611 - 23,262,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013962   ⟹   XP_016869451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,679 - 23,262,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013964   ⟹   XP_016869453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,679 - 23,262,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447327   ⟹   XP_024303095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,679 - 23,262,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447328   ⟹   XP_024303096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,679 - 23,262,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447329   ⟹   XP_024303097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,679 - 23,262,000 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689485   ⟸   NM_152272
- Peptide Label: isoform 1
- UniProtKB: Q8WUX9 (UniProtKB/Swiss-Prot),   B3KUH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304828   ⟸   NM_001317899
- Peptide Label: isoform 2
- UniProtKB: B3KMN6 (UniProtKB/TrEMBL),   B3KRZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869453   ⟸   XM_017013964
- Peptide Label: isoform X4
- UniProtKB: B3KRZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869451   ⟸   XM_017013962
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869450   ⟸   XM_017013961
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303095   ⟸   XM_024447327
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303096   ⟸   XM_024447328
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303097   ⟸   XM_024447329
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001350112   ⟸   NM_001363183
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000430321   ⟸   ENST00000517325
RefSeq Acc Id: ENSP00000428233   ⟸   ENST00000519414
RefSeq Acc Id: ENSP00000427948   ⟸   ENST00000519503
RefSeq Acc Id: ENSP00000430661   ⟸   ENST00000519984
RefSeq Acc Id: ENSP00000324491   ⟸   ENST00000313219
RefSeq Acc Id: ENSP00000380794   ⟸   ENST00000397677

Promoters
RGD ID:6806563
Promoter ID:HG_KWN:60919
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:NM_152272
Position:
Human AssemblyChrPosition (strand)Source
Build 36823,156,839 - 23,157,339 (+)MPROMDB
RGD ID:6806662
Promoter ID:HG_KWN:60920
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000313219,   UC003XDD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36823,159,906 - 23,160,406 (+)MPROMDB
RGD ID:7212871
Promoter ID:EPDNEW_H12179
Type:multiple initiation site
Name:CHMP7_2
Description:charged multivesicular body protein 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12177  EPDNEW_H12180  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,243,637 - 23,243,697EPDNEW
RGD ID:7212867
Promoter ID:EPDNEW_H12180
Type:initiation region
Name:CHMP7_1
Description:charged multivesicular body protein 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12177  EPDNEW_H12179  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,246,641 - 23,246,701EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2
uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3 copy number gain See cases [RCV000510870] Chr8:22381361..23226751 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:23099163-23515760)x1 copy number loss not provided [RCV000682978] Chr8:23099163..23515760 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_152272.5(CHMP7):c.1041C>T (p.Leu347=) single nucleotide variant not provided [RCV000963361] Chr8:23258812 [GRCh38]
Chr8:23116325 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_152272.5(CHMP7):c.891C>T (p.Ala297=) single nucleotide variant not provided [RCV000956575] Chr8:23258380 [GRCh38]
Chr8:23115893 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28439 AgrOrtholog
COSMIC CHMP7 COSMIC
Ensembl Genes ENSG00000147457 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000324491 UniProtKB/Swiss-Prot
  ENSP00000380794 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427948 UniProtKB/Swiss-Prot
  ENSP00000428233 UniProtKB/TrEMBL
  ENSP00000430321 UniProtKB/TrEMBL
  ENSP00000430661 UniProtKB/TrEMBL
Ensembl Transcript ENST00000313219 UniProtKB/Swiss-Prot
  ENST00000397677 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517325 UniProtKB/TrEMBL
  ENST00000519414 UniProtKB/TrEMBL
  ENST00000519503 UniProtKB/Swiss-Prot
  ENST00000519984 UniProtKB/TrEMBL
GTEx ENSG00000147457 GTEx
HGNC ID HGNC:28439 ENTREZGENE
Human Proteome Map CHMP7 Human Proteome Map
InterPro Snf7_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91782 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 91782 ENTREZGENE
OMIM 611130 OMIM
Pfam Snf7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672115 PharmGKB
UniProt B3KMN6 ENTREZGENE, UniProtKB/TrEMBL
  B3KRZ9 ENTREZGENE, UniProtKB/TrEMBL
  B3KUH0 ENTREZGENE, UniProtKB/TrEMBL
  CHMP7_HUMAN UniProtKB/Swiss-Prot
  E5RFR8_HUMAN UniProtKB/TrEMBL
  E5RIU9_HUMAN UniProtKB/TrEMBL
  E5RJI3_HUMAN UniProtKB/TrEMBL
  Q8WUX9 ENTREZGENE
UniProt Secondary B2RDT3 UniProtKB/Swiss-Prot
  B4DKJ6 UniProtKB/Swiss-Prot
  D3DSS1 UniProtKB/Swiss-Prot
  Q8NDM1 UniProtKB/Swiss-Prot
  Q9BT50 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-27 CHMP7  charged multivesicular body protein 7  CHMP7  CHMP family, member 7  Symbol and/or name change 5135510 APPROVED