Information on BCL10
Basic details
Alt. symbols: CARMEN | CIPER | mE10 | c-E10 | CLAP
Approved name: BCL10 immune signaling adaptor
Alt. names: B cell CLL/lymphoma 10, BCL10, immune signaling adaptor | CARD-like apoptotic protein, CARD-containing apoptotic signaling protein, CARD containing molecule enhancing NF-kB, caspase-recruiting domain-containing protein, CARD-containing proapoptotic protein
Location: 1p22.3: 85265776 - 85276632 (-)
Gene type: protein_coding, 5 transcripts.
Scores: LoFtool: 0.289000 | pLI: 0.11821322 | LOEUF: 0.731
Normal function
Dysfunction and disease
{Sezary syndrome, somatic} [MIM:-] | ?Immunodeficiency 37 [MIM:616098] | {Lymphoma, follicular, somatic} [MIM:605027] | {Male germ cell tumor, somatic} [MIM:273300] | {Mesothelioma, somatic} [MIM:156240] | Lymphoma, MALT, somatic [MIM:137245] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD37 |
Immunodeficiency 37 | AR |
616098 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of BCL10
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000620248.3 | protein_coding | 3 | No | 776 | NM_001320715 | |||
| 202 | ENST00000648566.1 | 1 | CCDS704 | Select | protein_coding | 3 | Yes | 2833 | NM_003921 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in BCL10
| ID | Year | Title | Journal | PMID | Variants |
|---|