Information on STN1
Basic details
Alt. symbols: OBFC1 | FLJ22559 | bA541N10.2
Approved name: STN1 subunit of CST complex
Alt. names: oligonucleotide/oligosaccharide binding fold containing 1, STN1, CST complex subunit
Location: 10q24.33: 103856806 - 103918332 (-)
Gene type: protein_coding, 20 transcripts.
Scores: LoFtool: 0.871000 | pLI: 0.00001325 | LOEUF: 1.224
Normal function
Dysfunction and disease
Cerebroretinal microangiopathy with calcifications and cysts 2 [MIM:617341] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
2734 |
Cerebroretinal microangiopathy with calcifications and cysts 2 | AR |
617341 |
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 STN1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000224950.8 | CCDS7552 | Select | protein_coding | 10 | Yes | 6369 | NM_024928 |
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 STN1
| ID | Year | Title | Journal | PMID | Variants |
|---|