Information on TMC6
Basic details
Alt. symbols: EVER1 | TNRC6C-AS1 | LAK-4P | EVIN1
Approved name: transmembrane channel like 6
Alt. names: epidermodysplasia verruciformis 1, TNRC6C antisense RNA 1
Location: 17q25.3: 78107397 - 78132407 (-)
Gene type: protein_coding, 32 transcripts.
Scores: LoFtool: 0.751000 | pLI: 0.00000005 | LOEUF: 0.753
Normal function
Dysfunction and disease
Epidermodysplasia verruciformis [MIM:226400] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
EV1 |
Epidermodysplasia verruciformis, susceptibility to, 1 | AR |
226400 |
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 TMC6
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 217 | ENST00000590602.6 | CCDS32748 | Select | protein_coding | 20 | Yes | 8387 | NM_001127198,NM_001374596 | |
| 222 | ENST00000592063.6 | protein_coding | No | 743 | NM_001375354 | ||||
| 201 | ENST00000306591.11 | protein_coding | 12 | No | 1681 | XM_047435276 | |||
| 212 | ENST00000589271.6 | protein_coding | No | 1099 | NM_001375353 | ||||
| 202 | ENST00000322914.7 | 1 | CCDS32748 | protein_coding | 20 | No | 2786 | NM_007267 | |
| 229 | ENST00000698548.1 | protein_coding | No | NM_001374593,NM_001374594 | |||||
| 231 | ENST00000698550.1 | protein_coding | No | NM_001321185 |
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 TMC6
| ID | Year | Title | Journal | PMID | Variants |
|---|