Information on SNX10
Basic details
Alt. symbols: OPTB8
Approved name: sorting nexin 10
Alt. names: sorting nexin10
Location: 7p15.2: 26291862 - 26374383 (+)
Gene type: protein_coding, 27 transcripts.
Scores: LoFtool: 0.579000 | pLI: 0.00585751 | LOEUF: 1.655
Normal function
Dysfunction and disease
Osteopetrosis, autosomal recessive 8 [MIM:615085] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
OPTB8 |
Osteopetrosis, autosomal recessive 8 | AR |
615085 |
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 SNX10
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000409838.1 | CCDS56470 | protein_coding | 4 | No | 944 | NM_001199838 | ||
| 202 | ENST00000396376.5 | CCDS5399 | protein_coding | 7 | No | 2491 | NM_001318199 | ||
| 203 | ENST00000409367.6 | protein_coding | 6 | No | 746 | XM_054358027 | |||
| 207 | ENST00000446848.6 | CCDS5399 | protein_coding | 7 | No | 2613 | NM_001199835,NM_001362754 | ||
| 201 | ENST00000338523.9 | CCDS5399 | Select | protein_coding | 7 | Yes | 2665 | NM_001199837,NM_001318198,NM_001362753,NM_013322 | |
| 215 | ENST00000698080.1 | protein_coding | No | XM_006715712 | |||||
| 219 | ENST00000698084.1 | protein_coding | No | XM_047420283 |
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 SNX10
| ID | Year | Title | Journal | PMID | Variants |
|---|