CBARP (CACN subunit beta associated regulatory protein) - Rat Genome Database

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Gene: CBARP (CACN subunit beta associated regulatory protein) Homo sapiens
Analyze
Symbol: CBARP
Name: CACN subunit beta associated regulatory protein
RGD ID: 1316225
HGNC Page HGNC
Description: Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in synaptic vesicle membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Predicted to colocalize with growth cone and secretory granule; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; benzo[a]pyrene; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BARP; C19orf26; DOS; downstream of Stk11; MGC40084
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 Ensembl191,228,287 - 1,238,027 (-)EnsemblGRCh38hg38GRCh38
GRCh38191,228,287 - 1,238,512 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37191,228,286 - 1,238,004 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,180,947 - 1,188,990 (-)NCBINCBI36hg18NCBI36
Build 34191,180,954 - 1,188,841NCBI
Celera191,164,180 - 1,172,223 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef191,005,343 - 1,039,838 (-)NCBIHuRef
CHM1_1191,229,860 - 1,237,926 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:15057824   PMID:15489334   PMID:16341674   PMID:17081983   PMID:17207965   PMID:21873635   PMID:24751537   PMID:25332235   PMID:26638075   PMID:27880917   PMID:28514442   PMID:30639242  
PMID:32296183   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
CBARP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl191,228,287 - 1,238,027 (-)EnsemblGRCh38hg38GRCh38
GRCh38191,228,287 - 1,238,512 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37191,228,286 - 1,238,004 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,180,947 - 1,188,990 (-)NCBINCBI36hg18NCBI36
Build 34191,180,954 - 1,188,841NCBI
Celera191,164,180 - 1,172,223 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef191,005,343 - 1,039,838 (-)NCBIHuRef
CHM1_1191,229,860 - 1,237,926 (-)NCBICHM1_1
Cbarp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,966,268 - 79,976,189 (-)NCBIGRCm39mm39
GRCm39 Ensembl1079,966,285 - 79,976,669 (-)Ensembl
GRCm381080,130,434 - 80,140,355 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,130,451 - 80,140,835 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,590,603 - 79,602,234 (-)NCBIGRCm37mm9NCBIm37
MGSCv361079,593,179 - 79,598,128 (-)NCBImm8
Celera1081,142,690 - 81,154,321 (-)NCBICelera
Cytogenetic Map10C1NCBI
Cbarp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,566,637 - 9,575,204 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl79,566,364 - 9,575,204 (+)Ensembl
Rnor_6.0712,433,422 - 12,441,048 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,433,933 - 12,441,048 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,603,527 - 12,611,153 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,079,431 - 11,087,057 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1711,079,064 - 11,086,662 (+)NCBI
Celera77,743,241 - 7,750,842 (+)NCBICelera
Cytogenetic Map7q11NCBI
Cbarp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,671,726 - 6,677,205 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,671,719 - 6,678,338 (+)NCBIChiLan1.0ChiLan1.0
LOC100989336
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1191,212,854 - 1,220,108 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl191,212,854 - 1,220,104 (-)Ensemblpanpan1.1panPan2
CBARP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,554,162 - 57,559,126 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,554,032 - 57,559,612 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,352,590 - 57,361,543 (+)NCBI
ROS_Cfam_1.02058,292,499 - 58,301,436 (+)NCBI
UMICH_Zoey_3.12057,348,311 - 57,356,988 (+)NCBI
UNSW_CanFamBas_1.02057,827,591 - 57,836,230 (+)NCBI
UU_Cfam_GSD_1.02058,030,594 - 58,039,504 (+)NCBI
LOC101976074
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,216,615 - 217,233,911 (+)NCBI
SpeTri2.0NW_004936588601,108 - 607,823 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CBARP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,221,171 - 77,230,056 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,220,790 - 77,230,418 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,823,483 - 77,831,001 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103233598
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16999,327 - 1,006,632 (-)NCBI
Vero_WHO_p1.0NW_0236660817,857,295 - 7,864,976 (+)NCBI
Cbarp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248287,435,633 - 7,444,483 (+)NCBI

Position Markers
RH80863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,244,426 - 1,244,649UniSTSGRCh37
Build 36191,195,426 - 1,195,649RGDNCBI36
Celera191,178,659 - 1,178,882RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,019,345 - 1,019,568UniSTS
GeneMap99-GB4 RH Map1918.51UniSTS
MIDN__6314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,258,123 - 1,258,873UniSTSGRCh37
Build 36191,209,123 - 1,209,873RGDNCBI36
Celera191,192,356 - 1,193,106RGD
HuRef191,032,217 - 1,032,967UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3931
Count of miRNA genes:853
Interacting mature miRNAs:1012
Transcripts:ENST00000215376, ENST00000382477, ENST00000589260, ENST00000590083, ENST00000591127
Prediction methods:Microtar, 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 25 15 285 1 9 2 266 28 1593 6 75 73 1 18 65
Low 1276 1576 990 225 337 120 2966 759 2109 264 1215 1321 119 1 890 1865 4 1
Below cutoff 1131 1354 435 384 1443 330 1123 1401 32 131 164 214 54 296 858 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001393918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW163263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM263341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM743507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX094586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK824551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000215376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,234,647 - 1,237,820 (-)Ensembl
RefSeq Acc Id: ENST00000382477   ⟹   ENSP00000371917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,229,179 - 1,237,991 (-)Ensembl
RefSeq Acc Id: ENST00000589260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,234,574 - 1,237,846 (-)Ensembl
RefSeq Acc Id: ENST00000590083   ⟹   ENSP00000465260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,228,287 - 1,238,027 (-)Ensembl
RefSeq Acc Id: ENST00000591127   ⟹   ENSP00000466109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,229,948 - 1,235,085 (-)Ensembl
RefSeq Acc Id: ENST00000648750   ⟹   ENSP00000496899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,228,287 - 1,238,027 (-)Ensembl
RefSeq Acc Id: ENST00000650044   ⟹   ENSP00000497208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,228,287 - 1,238,027 (-)Ensembl
RefSeq Acc Id: NM_001393918   ⟹   NP_001380847
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,228,287 - 1,238,005 (-)NCBI
RefSeq Acc Id: NM_152769   ⟹   NP_689982
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,228,287 - 1,238,005 (-)NCBI
GRCh37191,228,059 - 1,237,990 (-)NCBI
Build 36191,180,947 - 1,188,990 (-)NCBI Archive
Celera191,164,180 - 1,172,223 (-)RGD
HuRef191,005,343 - 1,039,838 (-)RGD
CHM1_1191,229,860 - 1,237,926 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026555   ⟹   XP_016882044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,228,287 - 1,238,512 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026556   ⟹   XP_016882045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,228,287 - 1,237,965 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026557   ⟹   XP_016882046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,228,287 - 1,236,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026558   ⟹   XP_016882047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,228,287 - 1,235,806 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026559   ⟹   XP_016882048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,230,149 - 1,238,512 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026560   ⟹   XP_016882049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,234,174 - 1,238,512 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026561   ⟹   XP_016882050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,235,079 - 1,238,512 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026562   ⟹   XP_016882051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,235,054 - 1,238,512 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001753654
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,231,105 - 1,238,512 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689982   ⟸   NM_152769
- Peptide Label: isoform 2
- UniProtKB: Q8N350 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882044   ⟸   XM_017026555
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016882045   ⟸   XM_017026556
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016882046   ⟸   XM_017026557
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016882047   ⟸   XM_017026558
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016882048   ⟸   XM_017026559
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016882049   ⟸   XM_017026560
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016882051   ⟸   XM_017026562
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016882050   ⟸   XM_017026561
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000496899   ⟸   ENST00000648750
RefSeq Acc Id: ENSP00000497208   ⟸   ENST00000650044
RefSeq Acc Id: ENSP00000465260   ⟸   ENST00000590083
RefSeq Acc Id: ENSP00000466109   ⟸   ENST00000591127
RefSeq Acc Id: ENSP00000371917   ⟸   ENST00000382477
RefSeq Acc Id: NP_001380847   ⟸   NM_001393918
- Peptide Label: isoform 1

Promoters
RGD ID:6795201
Promoter ID:HG_KWN:28372
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:ENST00000382477,   NM_152769
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,188,659 - 1,189,159 (-)MPROMDB
RGD ID:7237797
Promoter ID:EPDNEW_H24644
Type:initiation region
Name:CBARP_2
Description:CACN beta subunit associated regulatory protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24645  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,236,719 - 1,236,779EPDNEW
RGD ID:7237799
Promoter ID:EPDNEW_H24645
Type:initiation region
Name:CBARP_1
Description:CACN beta subunit associated regulatory protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,238,005 - 1,238,065EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1191935-1253715)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053940]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053940]|See cases [RCV000053940] Chr19:1191935..1253715 [GRCh38]
Chr19:1191934..1253714 [GRCh37]
Chr19:1142934..1204714 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1228275-1282856)x3 copy number gain See cases [RCV000134604] Chr19:1228275..1282856 [GRCh38]
Chr19:1228274..1282855 [GRCh37]
Chr19:1179274..1233855 [NCBI36]
Chr19:19p13.3
benign
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3 copy number gain Ductal breast carcinoma [RCV000207240] Chr19:1236038..1272435 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1 copy number loss See cases [RCV000053939] Chr19:1156372..1228333 [GRCh38]
Chr19:1156371..1228332 [GRCh37]
Chr19:1107371..1179332 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000455.4(STK11):c.*757C>T single nucleotide variant Peutz-Jeghers syndrome [RCV000264201] Chr19:1228333 [GRCh38]
Chr19:1228332 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000455.4(STK11):c.*846_*854del deletion Peutz-Jeghers syndrome [RCV000321618] Chr19:1228414..1228422 [GRCh38]
Chr19:1228413..1228421 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:1119019-1451274)x1 copy number loss not provided [RCV000739953] Chr19:1119019..1451274 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:1192769-1257027)x4 copy number gain not provided [RCV000752489] Chr19:1192769..1257027 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1199676-1257027)x4 copy number gain not provided [RCV000752490] Chr19:1199676..1257027 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1199676-1271274)x4 copy number gain not provided [RCV000752491] Chr19:1199676..1271274 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1199815-1244170)x4 copy number gain not provided [RCV000752492] Chr19:1199815..1244170 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1200713-1257027)x4 copy number gain not provided [RCV000752493] Chr19:1200713..1257027 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1218523-1257027)x4 copy number gain not provided [RCV000752494] Chr19:1218523..1257027 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1221319-1257027)x4 copy number gain not provided [RCV000752495] Chr19:1221319..1257027 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000455.5(STK11):c.*742G>A single nucleotide variant Peutz-Jeghers syndrome [RCV001128188] Chr19:1228318 [GRCh38]
Chr19:1228317 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000455.5(STK11):c.*766G>A single nucleotide variant Peutz-Jeghers syndrome [RCV001128189] Chr19:1228342 [GRCh38]
Chr19:1228341 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3 copy number gain not provided [RCV001007026] Chr19:1075192..2256387 [GRCh37]
Chr19:19p13.3
likely pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28617 AgrOrtholog
COSMIC CBARP COSMIC
Ensembl Genes ENSG00000099625 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000371917 UniProtKB/TrEMBL
  ENSP00000465260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466109 UniProtKB/TrEMBL
  ENSP00000496899 UniProtKB/TrEMBL
  ENSP00000497208 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382477 UniProtKB/TrEMBL
  ENST00000590083 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591127 UniProtKB/TrEMBL
  ENST00000648750 UniProtKB/TrEMBL
  ENST00000650044 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000099625 GTEx
HGNC ID HGNC:28617 ENTREZGENE
Human Proteome Map CBARP Human Proteome Map
InterPro CBARP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:255057 UniProtKB/Swiss-Prot
NCBI Gene 255057 ENTREZGENE
PANTHER PTHR28597 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134919853 PharmGKB
UniProt A0A140LJL2_HUMAN UniProtKB/TrEMBL
  A0A3B3IRU5_HUMAN UniProtKB/TrEMBL
  CBARP_HUMAN UniProtKB/Swiss-Prot
  K7ELJ5_HUMAN UniProtKB/TrEMBL
  Q8N350 ENTREZGENE
UniProt Secondary K7EJP2 UniProtKB/Swiss-Prot
  O43385 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 CBARP  CACN subunit beta associated regulatory protein    CACN beta subunit associated regulatory protein  Symbol and/or name change 5135510 APPROVED
2016-02-10 CBARP  CACN beta subunit associated regulatory protein    calcium channel, voltage-dependent, beta subunit associated regulatory protein  Symbol and/or name change 5135510 APPROVED
2015-07-21 CBARP  calcium channel, voltage-dependent, beta subunit associated regulatory protein  C19orf26  chromosome 19 open reading frame 26  Symbol and/or name change 5135510 APPROVED