Information on ERCC6L2
Basic details
Alt. symbols: C9orf102 | FLJ37706 | RAD26L | HEBO
Approved name: ERCC excision repair 6 like 2
Alt. names: chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2, excision repair cross-complementation group 6 like 2
Location: 9q22.32: 95871264 - 96121154 (+)
Gene type: protein_coding, 27 transcripts.
Scores: LoFtool: | pLI: 0.00155591 | LOEUF: 0.675
Normal function
Dysfunction and disease
Bone marrow failure syndrome 2 [MIM:615715]. Mutations in ERCC6L2, have been identified in patients with autosomal recessive bon marrow failure syndrome. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BMFS2 |
Bone marrow failure syndrome 2 | AR |
615715 |
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 ERCC6L2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000402838.3 | protein_coding | 17 | No | 3257 | XM_047423356 | |||
| 201 | ENST00000288985.13 | protein_coding | 14 | No | 4564 | NM_001010895 | |||
| 203 | ENST00000426805.3 | protein_coding | No | 498 | XM_047423362 | ||||
| 208 | ENST00000653738.2 | Select | protein_coding | 19 | Yes | 10245 | NM_001375291,NM_001375292,NM_020207 | ||
| 224 | ENST00000683350.1 | protein_coding | 18 | No | XM_011518646 | ||||
| 226 | ENST00000683991.1 | protein_coding | 18 | No | NM_001375293,NM_001375294 | ||||
| 227 | ENST00000715566.1 | protein_coding | No | XM_011518641 |
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 ERCC6L2
| ID | Year | Title | Journal | PMID | Variants |
|---|