Information on NCSTN
Basic details
Alt. symbols: KIAA0253 | APH2
Approved name: nicastrin
Alt. names: nicastrin | anterior pharynxdefective 2
Location: 1q23.2: 160343294 - 160358952 (+)
Gene type: protein_coding, 45 transcripts.
Scores: LoFtool: 0.159000 | pLI: 0.99998234 | LOEUF: 0.234
Normal function
Dysfunction and disease
Acne inversa, familial, 1 [MIM:142690] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
ACNINV1 |
Acne inversa, familial 1 | AD |
142690 |
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 NCSTN
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000294785.10 | 1 | CCDS1203 | Select | protein_coding | 17 | Yes | 2822 | NM_001290184,NM_001349729,NM_015331 |
| 215 | ENST00000699527.1 | nonsense_mediated_decay | No | XM_005245053 | |||||
| 237 | ENST00000699549.1 | protein_coding | No | NM_001290186 |
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 NCSTN
| ID | Year | Title | Journal | PMID | Variants |
|---|