BCL10 (BCL10 immune signaling adaptor) - Rat Genome Database

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Gene: BCL10 (BCL10 immune signaling adaptor) Homo sapiens
Analyze
Symbol: BCL10
Name: BCL10 immune signaling adaptor
RGD ID: 1347575
HGNC Page HGNC:989
Description: Enables several functions, including CARD domain binding activity; NF-kappaB binding activity; and enzyme binding activity. Contributes to kinase activator activity. Involved in several processes, including positive regulation of immune response; positive regulation of macromolecule metabolic process; and positive regulation of signal transduction. Located in several cellular components, including cytoplasmic microtubule; lysosome; and perinuclear region of cytoplasm. Part of CBM complex. Implicated in MALT lymphoma; immunodeficiency 37; malignant mesothelioma; and non-Hodgkin lymphoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B cell CLL/lymphoma 10; B-cell CLL/lymphoma 10; B-cell lymphoma/leukemia 10; bcl-10; BCL10, immune signaling adaptor; c-E10; CARD containing molecule enhancing NF-kB; CARD-containing apoptotic signaling protein; CARD-containing molecule enhancing NF-kappa-B; CARD-containing proapoptotic protein; carmen; caspase-recruiting domain-containing protein; cCARMEN; CED-3/ICH-1 prodomain homologous E10-like regulator; cellular homolog of vCARMEN; cellular-E10; ciper; CLAP; hCLAP; IMD37; mammalian CARD-containing adapter molecule E10; mE10
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
GRCh38185,265,776 - 85,276,632 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl185,265,776 - 85,276,632 (-)EnsemblGRCh38hg38GRCh38
GRCh37185,731,459 - 85,742,315 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36185,504,047 - 85,516,171 (-)NCBINCBI36Build 36hg18NCBI36
Build 34185,443,952 - 85,455,604NCBI
Celera183,975,888 - 83,987,016 (-)NCBICelera
Cytogenetic Map1p22.3NCBI
HuRef183,842,452 - 83,853,578 (-)NCBIHuRef
CHM1_1185,847,075 - 85,858,194 (-)NCBICHM1_1
T2T-CHM13v2.0185,106,896 - 85,117,748 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
3-methylcholanthrene  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
aripiprazole  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
capsaicin  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
furosemide  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
Myrtucommulone A  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nitrates  (ISO)
o-anisidine  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
paraquat  (EXP)
pentobarbital  (ISO)
phenobarbital  (EXP)
phosgene  (ISO)
pirinixic acid  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
silicon dioxide  (ISO)
sulforaphane  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
triptonide  (ISO)
valproic acid  (ISO)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive immune response  (IBA,IEA,IMP,TAS)
antifungal innate immune response  (IEA,ISS)
apoptotic process  (IEA)
B cell apoptotic process  (IEA,ISO)
cell death  (IDA)
cellular defense response  (IEA,ISO)
cellular response to lipopolysaccharide  (IEP)
cellular response to mechanical stimulus  (IEP)
fibroblast apoptotic process  (ISO)
I-kappaB kinase/NF-kappaB signaling  (IBA,IEA,ISO)
immune system process  (IEA)
immunoglobulin mediated immune response  (IEA,ISO)
innate immune response  (IEA,IEP)
lipopolysaccharide-mediated signaling pathway  (IDA)
negative regulation of mature B cell apoptotic process  (IDA)
neural tube closure  (IEA,ISS)
positive regulation of apoptotic process  (IDA,IEA,ISO)
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IEA,IMP,ISO)
positive regulation of cytokine production  (IEA)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of extrinsic apoptotic signaling pathway  (IBA,IDA,IEA,ISO)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IDA,IEP)
positive regulation of interleukin-6 production  (NAS)
positive regulation of interleukin-8 production  (IMP)
positive regulation of kinase activity  (IEA)
positive regulation of lymphotoxin A production  (NAS)
positive regulation of mast cell cytokine production  (NAS)
positive regulation of NF-kappaB transcription factor activity  (IDA,IEA)
positive regulation of phosphorylation  (IDA)
positive regulation of protein ubiquitination  (IDA)
positive regulation of T cell activation  (IEA,ISO)
positive regulation of T cell receptor signaling pathway  (IDA)
protein homooligomerization  (IDA)
regulation of apoptotic process  (IEA)
regulation of T cell receptor signaling pathway  (IEA,ISO)
response to food  (IDA)
response to fungus  (IEA,ISO)
T cell apoptotic process  (IEA,ISO)
T cell receptor signaling pathway  (IDA)
thymocyte apoptotic process  (ISO)
toll-like receptor signaling pathway  (IDA)

Cellular Component
CBM complex  (IBA,IDA,IEA,NAS)
cytoplasm  (IDA,IEA)
cytoplasmic microtubule  (IDA)
cytosol  (IBA,IDA,IEA,ISO,TAS)
immunological synapse  (IEA)
lysosome  (IDA)
membrane  (IEA)
membrane raft  (IEA)
nucleus  (IDA)
perinuclear region of cytoplasm  (IDA,IEA)
polkadots  (IEA)
protein-containing complex  (IDA,IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8813110   PMID:9989495   PMID:10187770   PMID:10187771   PMID:10187815   PMID:10319863   PMID:10364242   PMID:10380921   PMID:10400625   PMID:10753917   PMID:11021819   PMID:11053425  
PMID:11090634   PMID:11113112   PMID:11163238   PMID:11238466   PMID:11259443   PMID:11262391   PMID:11278692   PMID:11356195   PMID:11387339   PMID:11466612   PMID:11472070   PMID:11821383  
PMID:11830492   PMID:11836626   PMID:11960389   PMID:12017308   PMID:12154360   PMID:12477932   PMID:12761501   PMID:14523480   PMID:14638696   PMID:14674990   PMID:14695475   PMID:15082780  
PMID:15122200   PMID:15125833   PMID:15184390   PMID:15207693   PMID:15213237   PMID:15489334   PMID:15637807   PMID:15878976   PMID:16123224   PMID:16127295   PMID:16186825   PMID:16229939  
PMID:16280327   PMID:16341151   PMID:16356855   PMID:16395405   PMID:16647297   PMID:16712791   PMID:16775419   PMID:16785131   PMID:16809782   PMID:16831874   PMID:16920630   PMID:17047224  
PMID:17052756   PMID:17095757   PMID:17101977   PMID:17179215   PMID:17189706   PMID:17199743   PMID:17213322   PMID:17287217   PMID:17353931   PMID:17363905   PMID:17371994   PMID:17468049  
PMID:17502353   PMID:17540779   PMID:17893875   PMID:17948050   PMID:18223652   PMID:18231929   PMID:18252714   PMID:18287044   PMID:18307945   PMID:18346354   PMID:18349075   PMID:18625728  
PMID:18806265   PMID:18949449   PMID:19035248   PMID:19112107   PMID:19118383   PMID:19279678   PMID:19309400   PMID:19322201   PMID:19336552   PMID:19444310   PMID:19573080   PMID:19593445  
PMID:19690445   PMID:19709433   PMID:19773279   PMID:19815501   PMID:19897484   PMID:20164171   PMID:20237496   PMID:20439115   PMID:20466000   PMID:20551178   PMID:20695076   PMID:21048031  
PMID:21157432   PMID:21406399   PMID:21513986   PMID:21674474   PMID:21700900   PMID:21873635   PMID:21896478   PMID:21988832   PMID:22267217   PMID:22474286   PMID:22528498   PMID:22547678  
PMID:22564715   PMID:22579587   PMID:22658522   PMID:22708078   PMID:22810586   PMID:22812606   PMID:22818167   PMID:23153494   PMID:23264731   PMID:23530562   PMID:23661444   PMID:23690623  
PMID:23784377   PMID:24074955   PMID:24130731   PMID:24412244   PMID:24462114   PMID:24681956   PMID:24702227   PMID:24732096   PMID:25011391   PMID:25088585   PMID:25105596   PMID:25365219  
PMID:25384343   PMID:25416956   PMID:25548215   PMID:25569716   PMID:25748427   PMID:25849213   PMID:25910212   PMID:26038114   PMID:26488816   PMID:26496610   PMID:26638075   PMID:26668357  
PMID:26673895   PMID:26711259   PMID:26771713   PMID:26774590   PMID:27070702   PMID:27071417   PMID:27107012   PMID:27113748   PMID:27777308   PMID:27991920   PMID:28628108   PMID:28717989  
PMID:28765954   PMID:29259013   PMID:29358699   PMID:29382759   PMID:29953499   PMID:30206119   PMID:30279415   PMID:30283440   PMID:30336982   PMID:30514565   PMID:31047877   PMID:31178130  
PMID:31296852   PMID:31391255   PMID:31540324   PMID:31774199   PMID:31961340   PMID:32008135   PMID:32296183   PMID:32799824   PMID:33329596   PMID:33640899   PMID:33789983   PMID:33961781  
PMID:34315543   PMID:34711951   PMID:35099607   PMID:35658124   PMID:35727133   PMID:35750252  


Genomics

Comparative Map Data
BCL10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38185,265,776 - 85,276,632 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl185,265,776 - 85,276,632 (-)EnsemblGRCh38hg38GRCh38
GRCh37185,731,459 - 85,742,315 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36185,504,047 - 85,516,171 (-)NCBINCBI36Build 36hg18NCBI36
Build 34185,443,952 - 85,455,604NCBI
Celera183,975,888 - 83,987,016 (-)NCBICelera
Cytogenetic Map1p22.3NCBI
HuRef183,842,452 - 83,853,578 (-)NCBIHuRef
CHM1_1185,847,075 - 85,858,194 (-)NCBICHM1_1
T2T-CHM13v2.0185,106,896 - 85,117,748 (-)NCBIT2T-CHM13v2.0
Bcl10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393145,630,017 - 145,640,121 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3145,628,559 - 145,640,111 (+)EnsemblGRCm39 Ensembl
GRCm383145,924,262 - 145,934,366 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3145,922,804 - 145,934,356 (+)EnsemblGRCm38mm10GRCm38
MGSCv373145,587,342 - 145,597,247 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363145,861,764 - 145,871,669 (+)NCBIMGSCv36mm8
Celera3152,377,901 - 152,387,817 (+)NCBICelera
Cytogenetic Map3H2NCBI
Bcl10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22234,840,880 - 234,850,520 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2234,840,858 - 234,850,523 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2242,633,160 - 242,642,800 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02240,523,460 - 240,533,107 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02235,390,779 - 235,400,419 (+)NCBIRnor_WKY
Rnor_6.02251,805,392 - 251,814,957 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2251,805,392 - 251,814,957 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02270,330,540 - 270,340,105 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42244,116,880 - 244,126,393 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12244,103,619 - 244,113,130 (+)NCBI
Celera2226,822,923 - 226,832,565 (+)NCBICelera
Cytogenetic Map2q44NCBI
Bcl10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554238,709,890 - 8,722,050 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554238,710,231 - 8,720,530 (+)NCBIChiLan1.0ChiLan1.0
BCL10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1186,679,646 - 86,690,841 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01117,823,388 - 117,834,314 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
BCL10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1662,712,937 - 62,723,852 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl662,712,971 - 62,722,368 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha665,361,863 - 65,372,548 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0663,252,846 - 63,263,759 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl663,252,838 - 63,263,752 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1662,780,042 - 62,790,957 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0662,750,582 - 62,761,263 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0663,258,042 - 63,268,727 (+)NCBIUU_Cfam_GSD_1.0
Bcl10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505895,863,804 - 95,871,302 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936608434,740 - 442,162 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCL10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4130,645,216 - 130,657,995 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14130,645,427 - 130,653,317 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24143,237,003 - 143,244,894 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BCL10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12048,073,489 - 48,084,635 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2048,073,800 - 48,085,136 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603369,724,709 - 69,736,042 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bcl10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474212,210,360 - 12,221,759 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474212,210,333 - 12,222,533 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH98853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,732,970 - 85,733,217UniSTSGRCh37
Build 36185,505,558 - 85,505,805RGDNCBI36
Celera183,977,399 - 83,977,646RGD
Cytogenetic Map1p22UniSTS
HuRef183,843,964 - 83,844,211UniSTS
GeneMap99-GB4 RH Map1241.48UniSTS
BCL10_716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,732,645 - 85,733,478UniSTSGRCh37
Build 36185,505,233 - 85,506,066RGDNCBI36
Celera183,977,074 - 83,977,907RGD
HuRef183,843,639 - 83,844,472UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:448
Count of miRNA genes:349
Interacting mature miRNAs:368
Transcripts:ENST00000370580
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 adipose tissue appendage entire extraembryonic component
High
Medium 883 779 451 163 1456 98 2137 118 300 249 947 1052 78 872 874 3
Low 1549 2200 1272 459 488 366 2216 2072 3408 168 501 556 92 332 1912 1
Below cutoff 5 4 2 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF057700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI831624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA420027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA443148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB126730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF189176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000620248   ⟹   ENSP00000480561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl185,266,941 - 85,276,456 (-)Ensembl
RefSeq Acc Id: ENST00000648566   ⟹   ENSP00000498104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl185,265,776 - 85,276,632 (-)Ensembl
RefSeq Acc Id: ENST00000649060   ⟹   ENSP00000497490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl185,270,806 - 85,276,403 (-)Ensembl
RefSeq Acc Id: ENST00000649434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl185,269,054 - 85,276,418 (-)Ensembl
RefSeq Acc Id: ENST00000650582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl185,267,729 - 85,275,750 (-)Ensembl
RefSeq Acc Id: NM_001320715   ⟹   NP_001307644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,265,776 - 85,276,632 (-)NCBI
CHM1_1185,847,075 - 85,858,194 (-)NCBI
T2T-CHM13v2.0185,106,896 - 85,117,748 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003921   ⟹   NP_003912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,265,776 - 85,276,632 (-)NCBI
GRCh37185,731,459 - 85,742,604 (-)NCBI
Build 36185,504,047 - 85,516,171 (-)NCBI Archive
HuRef183,842,452 - 83,853,578 (-)ENTREZGENE
CHM1_1185,847,075 - 85,858,194 (-)NCBI
T2T-CHM13v2.0185,106,896 - 85,117,748 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542397   ⟹   XP_011540699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,265,776 - 85,276,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542398   ⟹   XP_011540700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,265,776 - 85,276,283 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542399   ⟹   XP_011540701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38185,265,776 - 85,276,632 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003912   ⟸   NM_003921
- Peptide Label: isoform 1
- UniProtKB: Q5VUF1 (UniProtKB/Swiss-Prot),   O95999 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540700   ⟸   XM_011542398
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011540699   ⟸   XM_011542397
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011540701   ⟸   XM_011542399
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001307644   ⟸   NM_001320715
- Peptide Label: isoform 2
- UniProtKB: A2TDT2 (UniProtKB/TrEMBL),   A0A087WWW9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498104   ⟸   ENST00000648566
RefSeq Acc Id: ENSP00000480561   ⟸   ENST00000620248
RefSeq Acc Id: ENSP00000497490   ⟸   ENST00000649060
Protein Domains
CARD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95999-F1-model_v2 AlphaFold O95999 1-233 view protein structure

Promoters
RGD ID:6856062
Promoter ID:EPDNEW_H1195
Type:initiation region
Name:BCL10_1
Description:B-cell CLL/lymphoma 10
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
GRCh38185,276,368 - 85,276,428EPDNEW
RGD ID:6785251
Promoter ID:HG_KWN:3474
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370580
Position:
Human AssemblyChrPosition (strand)Source
Build 36185,514,674 - 85,515,174 (-)MPROMDB
RGD ID:6785253
Promoter ID:HG_KWN:3476
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000271015,   UC001DKZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36185,517,026 - 85,517,526 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003921.5(BCL10):c.346+6A>G single nucleotide variant Immunodeficiency 37 [RCV000552984] Chr1:85270612 [GRCh38]
Chr1:85736295 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.488C>T (p.Thr163Met) single nucleotide variant Malignant tumor of testis [RCV000023309] Chr1:85267841 [GRCh38]
Chr1:85733524 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.163dup (p.Ile55fs) duplication Mucosa-associated lymphoma [RCV000006629] Chr1:85270800..85270801 [GRCh38]
Chr1:85736483..85736484 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.345del (p.Gly116fs) deletion Mucosa-associated lymphoma [RCV000006630] Chr1:85270619 [GRCh38]
Chr1:85736302 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.427_428dup (p.Glu145fs) duplication Follicular lymphoma [RCV000006631] Chr1:85267900..85267901 [GRCh38]
Chr1:85733583..85733584 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.231dup (p.Gly78fs) duplication Follicular lymphoma [RCV000006632] Chr1:85270732..85270733 [GRCh38]
Chr1:85736415..85736416 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.525_541del (p.Val176fs) deletion Follicular lymphoma [RCV000006633] Chr1:85267788..85267804 [GRCh38]
Chr1:85733471..85733487 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.410del (p.Asn137fs) deletion Follicular lymphoma [RCV000006634] Chr1:85267919 [GRCh38]
Chr1:85733602 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.398dup (p.Ser134fs) duplication Follicular lymphoma [RCV000006635] Chr1:85267930..85267931 [GRCh38]
Chr1:85733613..85733614 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.629AAG[2] (p.Glu212del) microsatellite Follicular lymphoma [RCV000006636] Chr1:85267692..85267694 [GRCh38]
Chr1:85733375..85733377 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.428del (p.Phe143fs) deletion Sezary syndrome [RCV000006638] Chr1:85267901 [GRCh38]
Chr1:85733584 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.172C>G (p.Arg58Gly) single nucleotide variant Male germ cell tumor, somatic [RCV000006643] Chr1:85270792 [GRCh38]
Chr1:85736475 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.172C>T (p.Arg58Ter) single nucleotide variant Male germ cell tumor, somatic [RCV000006644] Chr1:85270792 [GRCh38]
Chr1:85736475 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.338A>T (p.His113Leu) single nucleotide variant Immunodeficiency 37 [RCV000542479] Chr1:85270626 [GRCh38]
Chr1:85736309 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.136del (p.Ile46fs) deletion Mesothelioma [RCV000006641] Chr1:85270828 [GRCh38]
Chr1:85736511 [GRCh37]
Chr1:1p22.3
pathogenic|other
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
NM_003921.5(BCL10):c.499dup (p.Ser167fs) duplication Male germ cell tumor, somatic [RCV000023307]|Mesothelioma [RCV000023306]|Mucosa-associated lymphoma [RCV000006628] Chr1:85267829..85267830 [GRCh38]
Chr1:85733512..85733513 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.136dup (p.Ile46fs) duplication Carcinoma of colon [RCV000023308]|T-cell acute lymphoblastic leukemia [RCV000006637] Chr1:85270827..85270828 [GRCh38]
Chr1:85736510..85736511 [GRCh37]
Chr1:1p22.3
pathogenic|other
NM_003921.5(BCL10):c.57+1G>A single nucleotide variant Immunodeficiency 37 [RCV000148013] Chr1:85276295 [GRCh38]
Chr1:85741978 [GRCh37]
Chr1:1p22.3
pathogenic|not provided
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 copy number loss See cases [RCV000138957] Chr1:76419302..88628464 [GRCh38]
Chr1:76884987..89094147 [GRCh37]
Chr1:76657575..88866735 [NCBI36]
Chr1:1p31.1-22.2
pathogenic
NM_003921.5(BCL10):c.347-5T>C single nucleotide variant Immunodeficiency 37 [RCV000531265] Chr1:85267987 [GRCh38]
Chr1:85733670 [GRCh37]
Chr1:1p22.3
benign
NM_003921.5(BCL10):c.151G>C (p.Asp51His) single nucleotide variant Immunodeficiency 37 [RCV000806279] Chr1:85270813 [GRCh38]
Chr1:85736496 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.638G>A (p.Gly213Glu) single nucleotide variant Immunodeficiency 37 [RCV001520833]|not specified [RCV000454380] Chr1:85267691 [GRCh38]
Chr1:85733374 [GRCh37]
Chr1:1p22.3
benign
NM_003921.5(BCL10):c.24C>G (p.Leu8=) single nucleotide variant Immunodeficiency 37 [RCV001510946]|not specified [RCV000455048] Chr1:85276329 [GRCh38]
Chr1:85742012 [GRCh37]
Chr1:1p22.3
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_003921.5(BCL10):c.13G>T (p.Ala5Ser) single nucleotide variant Immunodeficiency 37 [RCV000532322] Chr1:85276340 [GRCh38]
Chr1:85742023 [GRCh37]
Chr1:1p22.3
benign
NM_003921.5(BCL10):c.6G>A (p.Glu2=) single nucleotide variant Immunodeficiency 37 [RCV000652442] Chr1:85276347 [GRCh38]
Chr1:85742030 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.181A>G (p.Ser61Gly) single nucleotide variant Immunodeficiency 37 [RCV000699388] Chr1:85270783 [GRCh38]
Chr1:85736466 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.285_286delinsCG (p.Ile96Val) indel Immunodeficiency 37 [RCV001202698] Chr1:85270678..85270679 [GRCh38]
Chr1:85736361..85736362 [GRCh37]
Chr1:1p22.3
uncertain significance
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.3(chr1:85679397-85786233)x3 copy number gain not provided [RCV000749055] Chr1:85679397..85786233 [GRCh37]
Chr1:1p22.3
benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_003921.5(BCL10):c.58-3del deletion Immunodeficiency 37 [RCV001066550] Chr1:85270909 [GRCh38]
Chr1:85736592 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.58-5T>C single nucleotide variant Immunodeficiency 37 [RCV000943581] Chr1:85270911 [GRCh38]
Chr1:85736594 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.42T>A (p.Thr14=) single nucleotide variant Immunodeficiency 37 [RCV001482914]|not provided [RCV000982310] Chr1:85276311 [GRCh38]
Chr1:85741994 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.390G>A (p.Thr130=) single nucleotide variant Immunodeficiency 37 [RCV001392698]|not provided [RCV000927550] Chr1:85267939 [GRCh38]
Chr1:85733622 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.588G>A (p.Gly196=) single nucleotide variant Immunodeficiency 37 [RCV000983678] Chr1:85267741 [GRCh38]
Chr1:85733424 [GRCh37]
Chr1:1p22.3
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_003921.5(BCL10):c.489G>A (p.Thr163=) single nucleotide variant Immunodeficiency 37 [RCV000936199] Chr1:85267840 [GRCh38]
Chr1:85733523 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.370C>G (p.Pro124Ala) single nucleotide variant Immunodeficiency 37 [RCV000798118] Chr1:85267959 [GRCh38]
Chr1:85733642 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.529C>T (p.Leu177=) single nucleotide variant Immunodeficiency 37 [RCV001438196]|not provided [RCV000978889] Chr1:85267800 [GRCh38]
Chr1:85733483 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.694C>T (p.Arg232Ter) single nucleotide variant Immunodeficiency 37 [RCV000808140] Chr1:85267635 [GRCh38]
Chr1:85733318 [GRCh37]
Chr1:1p22.3
uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2
not provided
NM_003921.5(BCL10):c.322A>G (p.Asn108Asp) single nucleotide variant Immunodeficiency 37 [RCV001225475] Chr1:85270642 [GRCh38]
Chr1:85736325 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.263G>A (p.Arg88Gln) single nucleotide variant Immunodeficiency 37 [RCV001219468] Chr1:85270701 [GRCh38]
Chr1:85736384 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.57+9C>T single nucleotide variant not provided [RCV000930515] Chr1:85276287 [GRCh38]
Chr1:85741970 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.346+9T>C single nucleotide variant Immunodeficiency 37 [RCV000979231] Chr1:85270609 [GRCh38]
Chr1:85736292 [GRCh37]
Chr1:1p22.3
benign
NM_003921.5(BCL10):c.347-4G>T single nucleotide variant Immunodeficiency 37 [RCV001447918]|not provided [RCV000921241] Chr1:85267986 [GRCh38]
Chr1:85733669 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.530T>G (p.Leu177Arg) single nucleotide variant Immunodeficiency 37 [RCV001069091] Chr1:85267799 [GRCh38]
Chr1:85733482 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.271A>C (p.Thr91Pro) single nucleotide variant Immunodeficiency 37 [RCV001059967] Chr1:85270693 [GRCh38]
Chr1:85736376 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.624G>C (p.Gln208His) single nucleotide variant Immunodeficiency 37 [RCV001234121] Chr1:85267705 [GRCh38]
Chr1:85733388 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.289C>G (p.Gln97Glu) single nucleotide variant Immunodeficiency 37 [RCV001204862] Chr1:85270675 [GRCh38]
Chr1:85736358 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.379G>A (p.Asp127Asn) single nucleotide variant Immunodeficiency 37 [RCV001219482] Chr1:85267950 [GRCh38]
Chr1:85733633 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.433_437delinsTTTTT (p.Glu145_Lys146delinsPheLeu) indel Immunodeficiency 37 [RCV001204005] Chr1:85267892..85267896 [GRCh38]
Chr1:85733575..85733579 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.529C>G (p.Leu177Val) single nucleotide variant Immunodeficiency 37 [RCV001053286] Chr1:85267800 [GRCh38]
Chr1:85733483 [GRCh37]
Chr1:1p22.3
uncertain significance
GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3 copy number gain not provided [RCV001259073] Chr1:80804502..89490384 [GRCh37]
Chr1:1p31.1-22.2
likely pathogenic
NM_003921.5(BCL10):c.58G>A (p.Ala20Thr) single nucleotide variant Immunodeficiency 37 [RCV001307153] Chr1:85270906 [GRCh38]
Chr1:85736589 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.260G>A (p.Arg87Gln) single nucleotide variant Immunodeficiency 37 [RCV001299878] Chr1:85270704 [GRCh38]
Chr1:85736387 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.360_362dup (p.Ser121dup) duplication Immunodeficiency 37 [RCV001346550] Chr1:85267966..85267967 [GRCh38]
Chr1:85733649..85733650 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.286A>G (p.Ile96Val) single nucleotide variant Immunodeficiency 37 [RCV001321854] Chr1:85270678 [GRCh38]
Chr1:85736361 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.682C>T (p.Arg228Cys) single nucleotide variant Immunodeficiency 37 [RCV001319383] Chr1:85267647 [GRCh38]
Chr1:85733330 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.76G>A (p.Val26Ile) single nucleotide variant Immunodeficiency 37 [RCV001373081] Chr1:85270888 [GRCh38]
Chr1:85736571 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.419del (p.Glu140fs) deletion Immunodeficiency 37 [RCV001363751] Chr1:85267910 [GRCh38]
Chr1:85733593 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.649A>G (p.Asn217Asp) single nucleotide variant Immunodeficiency 37 [RCV001365757] Chr1:85267680 [GRCh38]
Chr1:85733363 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.445G>A (p.Ala149Thr) single nucleotide variant Immunodeficiency 37 [RCV001294332] Chr1:85267884 [GRCh38]
Chr1:85733567 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.33G>A (p.Glu11=) single nucleotide variant Immunodeficiency 37 [RCV001492452] Chr1:85276320 [GRCh38]
Chr1:85742003 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.360C>T (p.Ser120=) single nucleotide variant Immunodeficiency 37 [RCV001451724] Chr1:85267969 [GRCh38]
Chr1:85733652 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.366T>C (p.Cys122=) single nucleotide variant Immunodeficiency 37 [RCV001441108] Chr1:85267963 [GRCh38]
Chr1:85733646 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.27C>T (p.Thr9=) single nucleotide variant Immunodeficiency 37 [RCV001418142] Chr1:85276326 [GRCh38]
Chr1:85742009 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.205T>C (p.Leu69=) single nucleotide variant Immunodeficiency 37 [RCV001461807] Chr1:85270759 [GRCh38]
Chr1:85736442 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.687T>C (p.Thr229=) single nucleotide variant Immunodeficiency 37 [RCV001480487] Chr1:85267642 [GRCh38]
Chr1:85733325 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.57+11C>G single nucleotide variant Immunodeficiency 37 [RCV001518355] Chr1:85276285 [GRCh38]
Chr1:85741968 [GRCh37]
Chr1:1p22.3
benign
NM_003921.5(BCL10):c.123A>G (p.Leu41=) single nucleotide variant Immunodeficiency 37 [RCV001406107] Chr1:85270841 [GRCh38]
Chr1:85736524 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.568A>G (p.Thr190Ala) single nucleotide variant Immunodeficiency 37 [RCV001875012] Chr1:85267761 [GRCh38]
Chr1:85733444 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.28G>A (p.Glu10Lys) single nucleotide variant Immunodeficiency 37 [RCV001970460] Chr1:85276325 [GRCh38]
Chr1:85742008 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.325A>G (p.Ile109Val) single nucleotide variant Immunodeficiency 37 [RCV002041782] Chr1:85270639 [GRCh38]
Chr1:85736322 [GRCh37]
Chr1:1p22.3
uncertain significance
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1
pathogenic
NM_003921.5(BCL10):c.395A>G (p.Asn132Ser) single nucleotide variant Immunodeficiency 37 [RCV001893807] Chr1:85267934 [GRCh38]
Chr1:85733617 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.695G>A (p.Arg232Gln) single nucleotide variant Immunodeficiency 37 [RCV001967009] Chr1:85267634 [GRCh38]
Chr1:85733317 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.23_24del (p.Leu8fs) deletion Immunodeficiency 37 [RCV001878200] Chr1:85276329..85276330 [GRCh38]
Chr1:85742012..85742013 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.578C>T (p.Pro193Leu) single nucleotide variant Immunodeficiency 37 [RCV002048043] Chr1:85267751 [GRCh38]
Chr1:85733434 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.433G>C (p.Glu145Gln) single nucleotide variant Immunodeficiency 37 [RCV001995452] Chr1:85267896 [GRCh38]
Chr1:85733579 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.685A>T (p.Thr229Ser) single nucleotide variant Immunodeficiency 37 [RCV001997383] Chr1:85267644 [GRCh38]
Chr1:85733327 [GRCh37]
Chr1:1p22.3
uncertain significance
NM_003921.5(BCL10):c.486G>A (p.Thr162=) single nucleotide variant Immunodeficiency 37 [RCV002109858] Chr1:85267843 [GRCh38]
Chr1:85733526 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.58-18A>G single nucleotide variant Immunodeficiency 37 [RCV002086947] Chr1:85270924 [GRCh38]
Chr1:85736607 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.156T>C (p.Thr52=) single nucleotide variant Immunodeficiency 37 [RCV002076130] Chr1:85270808 [GRCh38]
Chr1:85736491 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.82C>T (p.Leu28=) single nucleotide variant Immunodeficiency 37 [RCV002152113] Chr1:85270882 [GRCh38]
Chr1:85736565 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.552T>C (p.Asn184=) single nucleotide variant Immunodeficiency 37 [RCV002098530] Chr1:85267777 [GRCh38]
Chr1:85733460 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.402C>T (p.Ser134=) single nucleotide variant Immunodeficiency 37 [RCV002164770] Chr1:85267927 [GRCh38]
Chr1:85733610 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.333A>G (p.Leu111=) single nucleotide variant Immunodeficiency 37 [RCV002159233] Chr1:85270631 [GRCh38]
Chr1:85736314 [GRCh37]
Chr1:1p22.3
likely benign
NM_003921.5(BCL10):c.58-3dup duplication Immunodeficiency 37 [RCV002136721] Chr1:85270908..85270909 [GRCh38]
Chr1:85736591..85736592 [GRCh37]
Chr1:1p22.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:989 AgrOrtholog
COSMIC BCL10 COSMIC
Ensembl Genes ENSG00000142867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000480561 ENTREZGENE
  ENSP00000480561.2 UniProtKB/TrEMBL
  ENSP00000497490.1 UniProtKB/TrEMBL
  ENSP00000498104 ENTREZGENE
  ENSP00000498104.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000620248 ENTREZGENE
  ENST00000620248.2 UniProtKB/TrEMBL
  ENST00000648566 ENTREZGENE
  ENST00000648566.1 UniProtKB/Swiss-Prot
  ENST00000649060.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142867 GTEx
HGNC ID HGNC:989 ENTREZGENE
Human Proteome Map BCL10 Human Proteome Map
InterPro BCL10/E10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARD_BCL10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8915 UniProtKB/Swiss-Prot
NCBI Gene 8915 ENTREZGENE
OMIM 137245 OMIM
  156240 OMIM
  273300 OMIM
  603517 OMIM
  605027 OMIM
  616098 OMIM
PANTHER PTHR34920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25299 PharmGKB
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWW9 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISX2_HUMAN UniProtKB/TrEMBL
  A2TDT2 ENTREZGENE, UniProtKB/TrEMBL
  BCL10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VUF1 ENTREZGENE
UniProt Secondary Q5VUF1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 BCL10  BCL10 immune signaling adaptor    BCL10, immune signaling adaptor  Symbol and/or name change 5135510 APPROVED
2018-11-06 BCL10  BCL10, immune signaling adaptor    B cell CLL/lymphoma 10  Symbol and/or name change 5135510 APPROVED
2017-12-19 BCL10  B cell CLL/lymphoma 10    B-cell CLL/lymphoma 10  Symbol and/or name change 5135510 APPROVED
2011-08-16 BCL10  B-cell CLL/lymphoma 10  BCL10  B-cell CLL/lymphoma 10  Symbol and/or name change 5135510 APPROVED