CSPG4 (chondroitin sulfate proteoglycan 4) - Rat Genome Database

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Gene: CSPG4 (chondroitin sulfate proteoglycan 4) Homo sapiens
Analyze
Symbol: CSPG4
Name: chondroitin sulfate proteoglycan 4
RGD ID: 730838
HGNC Page HGNC
Description: Exhibits protein kinase binding activity. Involved in intracellular signal transduction and positive regulation of peptidyl-tyrosine phosphorylation. Localizes to nucleoplasm and plasma membrane. Implicated in relapsing-remitting multiple sclerosis. Biomarker of acute lymphoblastic leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chondroitin sulfate proteoglycan 4 (melanoma-associated); chondroitin sulfate proteoglycan NG2; CSPG4A; HMW-MAA; MCSP; MCSPG; MEL-CSPG; melanoma chondroitin sulfate proteoglycan; melanoma-associated chondroitin sulfate proteoglycan; MSK16; NG2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CSPG4BP   CSPG4P10   CSPG4P11   CSPG4P12   CSPG4P13   CSPG4P1Y   CSPG4P2Y   CSPG4P3Y   CSPG4P4Y   CSPG4P5   LOC440300  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1575,674,322 - 75,712,848 (-)EnsemblGRCh38hg38GRCh38
GRCh381575,674,322 - 75,712,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371575,966,663 - 76,005,189 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361573,753,718 - 73,792,244 (-)NCBINCBI36hg18NCBI36
Build 341573,754,018 - 73,792,151NCBI
Celera1552,892,353 - 52,930,874 (-)NCBI
Cytogenetic Map15q24.2NCBI
HuRef1552,722,948 - 52,761,468 (-)NCBIHuRef
CHM1_11576,086,119 - 76,124,652 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

Additional References at PubMed
PMID:8790396   PMID:9013976   PMID:9488735   PMID:10587647   PMID:10967549   PMID:11278606   PMID:12220645   PMID:12458226   PMID:12477932   PMID:14573520   PMID:15009727   PMID:15181153  
PMID:15210734   PMID:15231748   PMID:15342556   PMID:15504744   PMID:16169245   PMID:16253523   PMID:16335952   PMID:16365873   PMID:16407841   PMID:16455987   PMID:16625365   PMID:17268261  
PMID:17591920   PMID:17592550   PMID:17851550   PMID:18292781   PMID:18469852   PMID:18519770   PMID:18634019   PMID:18767415   PMID:18829565   PMID:19204726   PMID:19462316   PMID:19581412  
PMID:19776755   PMID:20379614   PMID:20448346   PMID:20455858   PMID:20805128   PMID:21070915   PMID:21092857   PMID:21123584   PMID:21423176   PMID:21658254   PMID:21798846   PMID:22004131  
PMID:22021902   PMID:22699001   PMID:22810586   PMID:22939629   PMID:22999866   PMID:23124902   PMID:23359523   PMID:23376485   PMID:23474192   PMID:23533145   PMID:23559515   PMID:23804106  
PMID:23925489   PMID:23953863   PMID:23995070   PMID:24177010   PMID:24334762   PMID:24386429   PMID:24740185   PMID:24932730   PMID:25016058   PMID:25166220   PMID:25503117   PMID:25713464  
PMID:26074703   PMID:26186194   PMID:26340347   PMID:26496610   PMID:26689475   PMID:26760575   PMID:26792897   PMID:26890881   PMID:27068509   PMID:27292772   PMID:28098860   PMID:28514442  
PMID:28675934   PMID:28715802   PMID:28842504   PMID:28945172   PMID:28964848   PMID:29054751   PMID:29180619   PMID:29196603   PMID:29291617   PMID:29302076   PMID:29462330   PMID:29507755  
PMID:29568061   PMID:30131676   PMID:30213051   PMID:30590711   PMID:30639242  


Genomics

Comparative Map Data
CSPG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1575,674,322 - 75,712,848 (-)EnsemblGRCh38hg38GRCh38
GRCh381575,674,322 - 75,712,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371575,966,663 - 76,005,189 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361573,753,718 - 73,792,244 (-)NCBINCBI36hg18NCBI36
Build 341573,754,018 - 73,792,151NCBI
Celera1552,892,353 - 52,930,874 (-)NCBI
Cytogenetic Map15q24.2NCBI
HuRef1552,722,948 - 52,761,468 (-)NCBIHuRef
CHM1_11576,086,119 - 76,124,652 (-)NCBICHM1_1
Cspg4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39956,772,388 - 56,807,154 (+)NCBIGRCm39mm39
GRCm39 Ensembl956,772,317 - 56,807,154 (+)Ensembl
GRCm38956,865,104 - 56,899,870 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl956,865,033 - 56,899,870 (+)EnsemblGRCm38mm10GRCm38
MGSCv37956,712,911 - 56,747,677 (+)NCBIGRCm37mm9NCBIm37
MGSCv36956,663,297 - 56,697,272 (+)NCBImm8
Celera954,090,244 - 54,125,014 (+)NCBICelera
Cytogenetic Map9BNCBI
Cspg4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2857,264,962 - 57,300,010 (+)NCBI
Rnor_6.0 Ensembl861,532,465 - 61,567,510 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0861,532,465 - 61,567,510 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0860,101,160 - 60,136,205 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4860,610,835 - 60,645,877 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1860,629,888 - 60,664,931 (+)NCBI
Celera856,733,067 - 56,768,114 (+)NCBICelera
Cytogenetic Map8q24NCBI
Cspg4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554502,631,327 - 2,662,269 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554502,631,310 - 2,663,118 (+)NCBIChiLan1.0ChiLan1.0
CSPG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11574,176,684 - 74,214,717 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1574,177,909 - 74,200,498 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01554,583,010 - 54,621,240 (-)NCBIMhudiblu_PPA_v0panPan3
CSPG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13038,465,486 - 38,498,365 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3038,465,241 - 38,497,971 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3038,394,709 - 38,427,802 (-)NCBI
ROS_Cfam_1.03038,670,891 - 38,703,644 (-)NCBI
UMICH_Zoey_3.13038,620,966 - 38,654,238 (-)NCBI
UNSW_CanFamBas_1.03038,663,208 - 38,700,081 (-)NCBI
UU_Cfam_GSD_1.03038,897,574 - 38,936,898 (-)NCBI
Cspg4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640116,590,615 - 116,627,014 (-)NCBI
SpeTri2.0NW_00493647134,438,676 - 34,475,005 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSPG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl757,949,455 - 57,988,337 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1757,949,182 - 57,988,602 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2762,640,958 - 62,678,668 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CSPG4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1267,735,972 - 7,761,355 (+)NCBI
ChlSab1.1 Ensembl267,694,014 - 7,761,342 (+)Ensembl
Vero_WHO_p1.0NW_023666048133,933,356 - 133,972,969 (-)NCBI
Cspg4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624894564,252 - 595,048 (-)NCBI

Position Markers
RH80434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371575,966,693 - 75,966,915UniSTSGRCh37
Build 361573,753,748 - 73,753,970RGDNCBI36
Celera1552,892,383 - 52,892,605RGD
Cytogenetic Map15q24.2UniSTS
HuRef1552,722,978 - 52,723,200UniSTS
GeneMap99-GB4 RH Map15255.98UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:663
Count of miRNA genes:477
Interacting mature miRNAs:527
Transcripts:ENST00000308508
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 2
Medium 1862 1763 402 37 198 13 3432 1663 1135 142 706 992 34 1 1198 2364 3
Low 498 490 1152 426 699 288 923 508 2587 248 721 523 140 6 424 1 2
Below cutoff 48 728 167 159 911 161 18 12 23 29 80 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000308508   ⟹   ENSP00000312506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1575,674,322 - 75,712,848 (-)Ensembl
RefSeq Acc Id: NM_001897   ⟹   NP_001888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,674,322 - 75,712,848 (-)NCBI
GRCh371575,966,663 - 76,005,189 (-)ENTREZGENE
Build 361573,753,718 - 73,792,244 (-)NCBI Archive
HuRef1552,722,948 - 52,761,468 (-)ENTREZGENE
CHM1_11576,086,119 - 76,124,652 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001888   ⟸   NM_001897
- Peptide Label: precursor
- UniProtKB: Q6UVK1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000312506   ⟸   ENST00000308508
Protein Domains
Laminin G-like

Promoters
RGD ID:6792195
Promoter ID:HG_KWN:21964
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001897
Position:
Human AssemblyChrPosition (strand)Source
Build 361573,791,931 - 73,792,431 (-)MPROMDB
RGD ID:7230165
Promoter ID:EPDNEW_H20828
Type:initiation region
Name:CSPG4_1
Description:chondroitin sulfate proteoglycan 4
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
GRCh381575,712,848 - 75,712,908EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.2(chr15:75307767-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053221]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053221]|See cases [RCV000053221] Chr15:75307767..75727625 [GRCh38]
Chr15:75600108..76019966 [GRCh37]
Chr15:73387161..73807021 [NCBI36]
Chr15:15q24.2
pathogenic
GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1 copy number loss See cases [RCV000053223] Chr15:75596961..76049787 [GRCh38]
Chr15:75889302..76342128 [GRCh37]
Chr15:73676357..74129183 [NCBI36]
Chr15:15q24.2
pathogenic
NM_001897.4(CSPG4):c.1077T>A (p.Ser359Arg) single nucleotide variant Malignant melanoma [RCV000070899] Chr15:75689988 [GRCh38]
Chr15:75982329 [GRCh37]
Chr15:73769384 [NCBI36]
Chr15:15q24.2
not provided
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3
uncertain significance
GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3 copy number gain See cases [RCV000240543] Chr15:75562397..76030552 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_001897.5(CSPG4):c.914C>T (p.Thr305Met) single nucleotide variant not specified [RCV000455026] Chr15:75690151 [GRCh38]
Chr15:75982492 [GRCh37]
Chr15:15q24.2
benign
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2
not provided
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication Witteveen-kolk syndrome [RCV000678018] Chr15:75600108..76063285 [GRCh37]
Chr15:15q24.2
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3
likely pathogenic
GRCh37/hg19 15q24.2(chr15:75630988-76053570)x1 copy number loss not provided [RCV000738822] Chr15:75630988..76053570 [GRCh37]
Chr15:15q24.2
benign
GRCh37/hg19 15q24.2(chr15:75950602-75991451)x3 copy number gain not provided [RCV000738823] Chr15:75950602..75991451 [GRCh37]
Chr15:15q24.2
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_001897.5(CSPG4):c.5646C>T (p.Ser1882=) single nucleotide variant not provided [RCV000898188] Chr15:75676873 [GRCh38]
Chr15:75969214 [GRCh37]
Chr15:15q24.2
likely benign
NM_001897.5(CSPG4):c.4578G>A (p.Ala1526=) single nucleotide variant not provided [RCV000929245] Chr15:75682913 [GRCh38]
Chr15:75975254 [GRCh37]
Chr15:15q24.2
likely benign
NM_001897.5(CSPG4):c.4862G>A (p.Arg1621His) single nucleotide variant not provided [RCV000881594] Chr15:75682381 [GRCh38]
Chr15:75974722 [GRCh37]
Chr15:15q24.2
likely benign
NM_001897.5(CSPG4):c.4670G>A (p.Arg1557His) single nucleotide variant not provided [RCV000881474] Chr15:75682720 [GRCh38]
Chr15:75975061 [GRCh37]
Chr15:15q24.2
likely benign
GRCh37/hg19 15q24.2(chr15:75648132-76102251) copy number loss not provided [RCV000767757] Chr15:75648132..76102251 [GRCh37]
Chr15:15q24.2
pathogenic
NM_001897.5(CSPG4):c.112C>T (p.Leu38=) single nucleotide variant not provided [RCV000906812] Chr15:75693210 [GRCh38]
Chr15:75985551 [GRCh37]
Chr15:15q24.2
benign
NM_001897.5(CSPG4):c.199G>A (p.Ala67Thr) single nucleotide variant not provided [RCV000898156] Chr15:75693123 [GRCh38]
Chr15:75985464 [GRCh37]
Chr15:15q24.2
benign
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3 copy number gain not provided [RCV000848480] Chr15:75508057..76128091 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_001897.5(CSPG4):c.252+10G>A single nucleotide variant not provided [RCV000967373] Chr15:75693060 [GRCh38]
Chr15:75985401 [GRCh37]
Chr15:15q24.2
likely benign
NM_001897.5(CSPG4):c.6782C>A (p.Thr2261Asn) single nucleotide variant not provided [RCV000920828] Chr15:75675737 [GRCh38]
Chr15:75968078 [GRCh37]
Chr15:15q24.2
likely benign
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3 copy number gain not provided [RCV001259709] Chr15:75440382..76133553 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3 copy number gain not provided [RCV001259710] Chr15:75920400..76632051 [GRCh37]
Chr15:15q24.2-24.3
uncertain significance
Single allele deletion Epilepsy [RCV001293374] Chr15:75596353..76103430 [GRCh37]
Chr15:15q24.2
pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2466 AgrOrtholog
COSMIC CSPG4 COSMIC
Ensembl Genes ENSG00000173546 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000312506 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308508 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000173546 GTEx
HGNC ID HGNC:2466 ENTREZGENE
Human Proteome Map CSPG4 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  CSPG_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot
KEGG Report hsa:1464 UniProtKB/Swiss-Prot
NCBI Gene 1464 ENTREZGENE
OMIM 601172 OMIM
Pfam Laminin_G_1 UniProtKB/Swiss-Prot
  Laminin_G_2 UniProtKB/Swiss-Prot
PharmGKB PA26963 PharmGKB
PROSITE CSPG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot
SMART LamG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot
UniProt A2VCL1_HUMAN UniProtKB/TrEMBL
  CSPG4_HUMAN UniProtKB/Swiss-Prot
  L8E9X8_HUMAN UniProtKB/TrEMBL
  Q6UVK1 ENTREZGENE
UniProt Secondary D3DW77 UniProtKB/Swiss-Prot
  Q92675 UniProtKB/Swiss-Prot