Information on FERMT1
Basic details
Alt. symbols: C20orf42 | FLJ20116 | URP1 | KIND1 | UNC112A
Approved name: FERM domain containing kindlin 1
Alt. names: chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila) | kindlin-1, kinderlin
Location: 20p12.3: 6074845 - 6123214 (-)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.471000 | pLI: 0.00000076 | LOEUF: 0.854
Normal function
Dysfunction and disease
Kindler syndrome [MIM:173650] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
KIND1 |
Kindler syndrome | AR |
173650 |
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 FERMT1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000217289.9 | CCDS13098 | Select | protein_coding | 15 | Yes | 4637 | NM_017671 | |
| 205 | ENST00000699095.1 | protein_coding | No | XM_047440260 |
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 FERMT1
| ID | Year | Title | Journal | PMID | Variants |
|---|