Information on SKIC2
Basic details
Alt. symbols: SKIV2L | SKIV2 | HLP | DDX13 | SKI2W | 170A | SKIV2L1
Approved name: SKI2 subunit of superkiller complex
Alt. names: superkiller viralicidic activity 2 (S. cerevisiae homolog)-like, superkiller viralicidic activity 2-like (S. cerevisiae), SKI2 homolog, superkiller viralicidic activity 2-like
Location: 6p21.33: 31959116 - 31969818 (+)
Gene type: protein_coding, 27 transcripts.
Scores: LoFtool: 0.965000 | pLI: 0.00000000 | LOEUF: 0.877
Normal function
Dysfunction and disease
Trichohepatoenteric syndrome 2 [MIM:614602] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
THES2 |
Trichohepatoenteric syndrome 2 | AR |
614602 |
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 SKIC2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 213 | ENST00000491994.2 | protein_coding | No | 866 | XM_011514815 | ||||
| 201 | ENST00000375394.7 | CCDS4731 | Select | protein_coding | 28 | Yes | 3795 | NM_006929 |
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 SKIC2
| ID | Year | Title | Journal | PMID | Variants |
|---|