Information on FANCB
Basic details
Alt. symbols: FAB | FLJ34064 | FAAP95
Approved name: FA complementation group B
Alt. names: Fanconi anemia complementation group B
Location: Xp22.2: 14690388 - 14873255 (-)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: | pLI: 0.98839353 | LOEUF: 0.227
Normal function
Dysfunction and disease
Fanconi anemia, complementation group B [MIM:300514] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCB |
Fanconi anemia,complementation group B | XLR |
300514 |
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 FANCB
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000324138.7 | CCDS14161 | protein_coding | 9 | No | 2894 | NM_152633 | ||
| 203 | ENST00000452869.2 | protein_coding | No | 2712 | XM_017029356 | ||||
| 207 | ENST00000650831.1 | 1 | CCDS14161 | Select | protein_coding | 10 | Yes | 3017 | NM_001018113,NM_001324162 |
| 214 | ENST00000696353.1 | protein_coding | No | NM_001410764 |
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. |
| - | Skewed X-linked inactivation | - | 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 FANCB
| ID | Year | Title | Journal | PMID | Variants |
|---|