Information on AP3D1
Basic details
Alt. symbols: ADTD
Approved name: adaptor related protein complex 3 subunit delta 1
Alt. names: adaptor related protein complex 3 delta 1 subunit
Location: 19p13.3: 2100988 - 2164468 (-)
Gene type: protein_coding, 20 transcripts.
Scores: LoFtool: 0.225000 | pLI: 0.79800253 | LOEUF: 0.296
Normal function
Dysfunction and disease
?Hermansky-Pudlak syndrome 10 [MIM:617050] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HPS10 |
Hermansky-Pudlak syndrome 10 | AR |
617050 |
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 AP3D1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000345016.9 | CCDS42459 | protein_coding | 30 | No | 4870 | NM_003938 | ||
| 213 | ENST00000643116.3 | 1 | CCDS58638 | Select | protein_coding | 32 | Yes | 5065 | NM_001261826 |
| 220 | ENST00000700387.1 | protein_coding | No | NM_001374799 |
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 AP3D1
| ID | Year | Title | Journal | PMID | Variants |
|---|