CHMP4C (charged multivesicular body protein 4C) - Rat Genome Database

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Gene: CHMP4C (charged multivesicular body protein 4C) Homo sapiens
Analyze
Symbol: CHMP4C
Name: charged multivesicular body protein 4C
RGD ID: 1606751
HGNC Page HGNC
Description: Enables protein homodimerization activity. Involved in several processes, including midbody abscission; regulation of cell cycle process; and ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway. Located in Flemming body.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: chromatin modifying protein 4C; chromatin-modifying protein 4c; hSnf7-3; hVps32-3; MGC22825; Shax3; SNF7 homolog associated with Alix 3; Snf7 homologue associated with Alix 3; SNF7-3; vacuolar protein sorting-associated protein 32-3; vps32-3; VPS32C
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 Ensembl881,732,448 - 81,759,515 (+)EnsemblGRCh38hg38GRCh38
GRCh38881,732,448 - 81,759,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37882,644,683 - 82,671,750 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36882,807,243 - 82,834,305 (+)NCBINCBI36hg18NCBI36
Celera878,649,178 - 78,676,231 (+)NCBI
Cytogenetic Map8q21.13NCBI
HuRef878,134,628 - 78,161,684 (+)NCBIHuRef
CHM1_1882,696,279 - 82,723,341 (+)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
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:11031247   PMID:12477932   PMID:12860994   PMID:14505569   PMID:14505570   PMID:14519844   PMID:14583093   PMID:14678797   PMID:15489334   PMID:16730941   PMID:17711858   PMID:18511562  
PMID:18641129   PMID:19302785   PMID:20588296   PMID:20616062   PMID:21394083   PMID:21494275   PMID:21762796   PMID:21762798   PMID:21873635   PMID:21988832   PMID:22422861   PMID:22547407  
PMID:22724069   PMID:23376485   PMID:23535730   PMID:24814515   PMID:25005938   PMID:25099357   PMID:25416956   PMID:26344197   PMID:26673895   PMID:26712741   PMID:26929449   PMID:27784789  
PMID:29362225   PMID:29562220   PMID:29968190   PMID:29987050   PMID:30181294   PMID:31586073  


Genomics

Comparative Map Data
CHMP4C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl881,732,448 - 81,759,515 (+)EnsemblGRCh38hg38GRCh38
GRCh38881,732,448 - 81,759,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37882,644,683 - 82,671,750 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36882,807,243 - 82,834,305 (+)NCBINCBI36hg18NCBI36
Celera878,649,178 - 78,676,231 (+)NCBI
Cytogenetic Map8q21.13NCBI
HuRef878,134,628 - 78,161,684 (+)NCBIHuRef
CHM1_1882,696,279 - 82,723,341 (+)NCBICHM1_1
Chmp4c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39310,432,033 - 10,456,065 (+)NCBIGRCm39mm39
GRCm39 Ensembl310,431,967 - 10,493,916 (+)Ensembl
GRCm38310,366,973 - 10,391,005 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl310,366,907 - 10,428,856 (+)EnsemblGRCm38mm10GRCm38
MGSCv37310,366,973 - 10,391,005 (+)NCBIGRCm37mm9NCBIm37
MGSCv36310,349,505 - 10,373,537 (+)NCBImm8
MGSCv36310,412,264 - 10,436,293 (+)NCBImm8
Celera310,401,114 - 10,425,079 (+)NCBICelera
Cytogenetic Map3A1NCBI
Chmp4c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2291,391,729 - 91,428,652 (-)NCBI
Rnor_6.0 Ensembl293,574,559 - 93,641,497 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0293,574,554 - 93,641,497 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02113,397,120 - 113,397,419 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02113,334,155 - 113,340,595 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4293,330,478 - 93,382,152 (-)NCBIRGSC3.4rn4RGSC3.4
Celera286,994,242 - 87,031,805 (-)NCBICelera
Cytogenetic Map2q23NCBI
Chmp4c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541796,865 - 137,739 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541796,674 - 135,601 (+)NCBIChiLan1.0ChiLan1.0
CHMP4C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1879,879,823 - 79,906,859 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl879,879,716 - 79,906,852 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0878,259,783 - 78,286,807 (+)NCBIMhudiblu_PPA_v0panPan3
CHMP4C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12928,839,459 - 28,865,793 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2928,839,516 - 28,865,023 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2929,120,369 - 29,146,705 (+)NCBI
ROS_Cfam_1.02928,973,519 - 28,999,876 (+)NCBI
UMICH_Zoey_3.12929,042,865 - 29,069,392 (+)NCBI
UNSW_CanFamBas_1.02929,056,789 - 29,083,112 (+)NCBI
UU_Cfam_GSD_1.02929,413,985 - 29,440,300 (+)NCBI
Chmp4c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530350,341,913 - 50,367,586 (-)NCBI
SpeTri2.0NW_0049366562,531,654 - 2,558,106 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHMP4C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl454,859,930 - 54,895,193 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1454,860,481 - 54,895,229 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2460,005,464 - 60,014,021 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHMP4C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1877,143,302 - 77,174,874 (+)NCBI
ChlSab1.1 Ensembl877,143,612 - 77,173,852 (+)Ensembl
Vero_WHO_p1.0NW_02366603964,018,455 - 64,051,732 (-)NCBI
Chmp4c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247449,735,585 - 9,769,635 (-)NCBI

Position Markers
RH99324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37882,671,347 - 82,671,509UniSTSGRCh37
Build 36882,833,902 - 82,834,064RGDNCBI36
Celera878,675,828 - 78,675,990RGD
Cytogenetic Map8q21.13UniSTS
HuRef878,161,281 - 78,161,443UniSTS
GeneMap99-GB4 RH Map8409.64UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:338
Count of miRNA genes:289
Interacting mature miRNAs:301
Transcripts:ENST00000297265
Prediction methods:Miranda, 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.


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 779 687 1124 276 256 124 1651 37 265 321 554 1124 161 6 953 3 1
Low 1373 1527 594 347 745 340 1861 1280 1385 94 791 455 12 1 1154 1107 3 1
Below cutoff 285 639 7 1 753 1 807 843 2031 3 113 31 1 43 698

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297265   ⟹   ENSP00000297265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl881,732,448 - 81,759,515 (+)Ensembl
RefSeq Acc Id: NM_152284   ⟹   NP_689497
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38881,732,448 - 81,759,515 (+)NCBI
GRCh37882,644,688 - 82,671,750 (+)RGD
Build 36882,807,243 - 82,834,305 (+)NCBI Archive
Celera878,649,178 - 78,676,231 (+)RGD
HuRef878,134,628 - 78,161,684 (+)ENTREZGENE
CHM1_1882,696,279 - 82,723,341 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689497   ⟸   NM_152284
- UniProtKB: Q96CF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000297265   ⟸   ENST00000297265

Promoters
RGD ID:7213649
Promoter ID:EPDNEW_H12570
Type:multiple initiation site
Name:CHMP4C_2
Description:charged multivesicular body protein 4C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12571  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38881,732,336 - 81,732,396EPDNEW
RGD ID:7213651
Promoter ID:EPDNEW_H12571
Type:initiation region
Name:CHMP4C_1
Description:charged multivesicular body protein 4C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38881,732,484 - 81,732,544EPDNEW
RGD ID:6806562
Promoter ID:HG_KWN:61601
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000297265
Position:
Human AssemblyChrPosition (strand)Source
Build 36882,806,351 - 82,807,247 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
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 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3 copy number gain See cases [RCV000137815] Chr8:81188681..82043830 [GRCh38]
Chr8:82100916..82956065 [GRCh37]
Chr8:82263471..83118620 [NCBI36]
Chr8:8q21.13
likely benign
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 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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
GRCh37/hg19 8q21.13(chr8:82083686-82962356)x3 copy number gain See cases [RCV000449050] Chr8:82083686..82962356 [GRCh37]
Chr8:8q21.13
uncertain significance
GRCh37/hg19 8q21.13(chr8:82349850-84358646)x1 copy number loss See cases [RCV000446913] Chr8:82349850..84358646 [GRCh37]
Chr8:8q21.13
uncertain significance
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 8q21.13-21.2(chr8:82652413-84809475)x1 copy number loss See cases [RCV000447528] Chr8:82652413..84809475 [GRCh37]
Chr8:8q21.13-21.2
uncertain significance
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 8q21.11-21.13(chr8:77751515-83516216)x1 copy number loss See cases [RCV000511429] Chr8:77751515..83516216 [GRCh37]
Chr8:8q21.11-21.13
pathogenic
GRCh37/hg19 8q21.13(chr8:82534933-83229899)x3 copy number gain See cases [RCV000511249] Chr8:82534933..83229899 [GRCh37]
Chr8:8q21.13
uncertain significance
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 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 8q21.13(chr8:82603894-82862754)x3 copy number gain not provided [RCV000682962] Chr8:82603894..82862754 [GRCh37]
Chr8:8q21.13
likely benign
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
GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1 copy number loss not provided [RCV000847829] Chr8:82196649..85352499 [GRCh37]
Chr8:8q21.13-21.2
uncertain significance
GRCh37/hg19 8q21.13(chr8:82581743-82652385)x1 copy number loss not provided [RCV001006116] Chr8:82581743..82652385 [GRCh37]
Chr8:8q21.13
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30599 AgrOrtholog
COSMIC CHMP4C COSMIC
Ensembl Genes ENSG00000164695 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297265 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297265 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164695 GTEx
HGNC ID HGNC:30599 ENTREZGENE
Human Proteome Map CHMP4C Human Proteome Map
InterPro Snf7_fam UniProtKB/Swiss-Prot
KEGG Report hsa:92421 UniProtKB/Swiss-Prot
NCBI Gene 92421 ENTREZGENE
OMIM 610899 OMIM
Pfam Snf7 UniProtKB/Swiss-Prot
PharmGKB PA142672113 PharmGKB
UniProt CHM4C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RBZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-27 CHMP4C  charged multivesicular body protein 4C  CHMP4C  chromatin modifying protein 4C  Symbol and/or name change 5135510 APPROVED