Information on RHOH
Basic details
Alt. symbols: ARHH | TTF
Approved name: ras homolog family member H
Alt. names: ras homolog gene family, member H
Location: 4p14: 40191011 - 40246967 (+)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.357000 | pLI: 0.12327946 | LOEUF: 1.061
Normal function
Dysfunction and disease
{?Epidermodysplasia verruciformis, susceptibility to, 4} [MIM:618307] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD129 |
Immunodeficiency 129 | AR |
618307 |
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 RHOH
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000503754.6 | processed_transcript | No | NM_001278365,NM_001278366 | |||||
| 206 | ENST00000505618.6 | CCDS3458 | protein_coding | No | 1225 | NM_001278368 | |||
| 208 | ENST00000508513.6 | protein_coding | No | 874 | NM_001278364 | ||||
| 211 | ENST00000513894.6 | processed_transcript | No | NM_001278361 | |||||
| 216 | ENST00000515718.6 | processed_transcript | No | NM_001278362 | |||||
| 207 | ENST00000507851.6 | protein_coding | No | 814 | NM_001278367 | ||||
| 201 | ENST00000381799.10 | 1 | CCDS3458 | Select | protein_coding | 3 | Yes | 4181 | NM_001278359,NM_001278363,NM_004310 |
| 214 | ENST00000515503.6 | processed_transcript | No | NM_001278360 | |||||
| 203 | ENST00000503941.6 | protein_coding | No | 789 | NM_001278369 |
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 RHOH
| ID | Year | Title | Journal | PMID | Variants |
|---|