Information on HYOU1
Basic details
Alt. symbols: ORP150 | HSP12A | Grp170
Approved name: hypoxia up-regulated 1
Alt. names: glucose-regulated protein 170
Location: 11q23.3: 119044188 - 119057227 (-)
Gene type: protein_coding, 29 transcripts.
Scores: LoFtool: 0.406000 | pLI: 0.99977936 | LOEUF: 0.331
Normal function
Dysfunction and disease
?Immunodeficiency 59 and hypoglycemia [MIM:233600] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD59 |
Immunodeficiency 59 and hypoglycemia | AR |
233600 |
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 HYOU1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 219 | ENST00000614711.5 | protein_coding | 18 | No | 3057 | NM_001130991 | |||
| 220 | ENST00000617285.5 | CCDS8408 | Select | protein_coding | 26 | Yes | 4598 | NM_006389 | |
| 223 | ENST00000652093.1 | protein_coding | 26 | No | 4367 | XM_005271392 | |||
| 207 | ENST00000530473.6 | protein_coding | No | 2023 | XM_017017096 | ||||
| 228 | ENST00000694935.1 | protein_coding | No | NM_001411041 |
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 HYOU1
| ID | Year | Title | Journal | PMID | Variants |
|---|