Information on FANCM
Basic details
Alt. symbols: KIAA1596 | FAAP250
Approved name: FA complementation group M
Alt. names: KIAA1596, Fanconi anemia complementation group M
Location: 14q21.2: 45135930 - 45200890 (+)
Gene type: protein_coding, 41 transcripts.
Scores: LoFtool: 0.960000 | pLI: 0.00000000 | LOEUF: 0.593
Normal function
Dysfunction and disease
?Premature ovarian failure 15 [MIM:618096] | Spermatogenic failure 28 [MIM:618086] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
POF15 |
Premature ovarian failure 15 | AR |
618096 |
0 (0 fams) | |
| FANCM |
Fanconi anemia type M | AR |
- | 0 (0 fams) | |
| SPGF28 |
Spermatogenic failure 28 | AR |
618086 |
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 FANCM
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000267430.10 | 1 | CCDS32070 | Select | protein_coding | 23 | Yes | 7131 | NM_020937 |
| 208 | ENST00000556036.6 | CCDS81802 | protein_coding | 11 | No | 2354 | NM_001308134 | ||
| 205 | ENST00000554809.6 | protein_coding | No | 3112 | XM_011537037 | ||||
| 202 | ENST00000542564.6 | CCDS76677 | protein_coding | 22 | No | 6167 | NM_001308133 | ||
| 217 | ENST00000696647.1 | nonsense_mediated_decay | No | XM_054376499 | |||||
| 228 | ENST00000696664.1 | protein_coding | No | XM_047431634 |
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 FANCM
| ID | Year | Title | Journal | PMID | Variants |
|---|