Information on CYBC1
Basic details
Alt. symbols: C17orf62 | MGC4368 | FLJ90469 | Eros
Approved name: cytochrome b-245 chaperone 1
Alt. names: chromosome 17 open reading frame 62
Location: 17q25.3: 82440912 - 82450829 (-)
Gene type: protein_coding, 51 transcripts.
Scores: LoFtool: 0.083400 | pLI: 0.00095506 | LOEUF: 1.312
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CGD5 |
Granulomatous disease, chronic, 5 | AR |
618935 |
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 CYBC1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000437807.6 | CCDS32776 | protein_coding | 8 | No | 2242 | NM_001193653 | ||
| 216 | ENST00000578919.6 | CCDS32776 | protein_coding | 8 | No | 841 | NM_001100407 | ||
| 201 | ENST00000306645.10 | CCDS32776 | Select | protein_coding | 7 | Yes | 2073 | NM_001033046,NM_001193654 | |
| 203 | ENST00000434650.6 | CCDS45817 | protein_coding | 6 | No | 2050 | NM_001100408 | ||
| 210 | ENST00000577732.5 | CCDS32776 | protein_coding | 7 | No | 1053 | NM_001193655 | ||
| 208 | ENST00000577696.6 | protein_coding | No | 656 | NM_001193657 | ||||
| 242 | ENST00000698820.1 | protein_coding | No | XM_047436741 |
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 CYBC1
| ID | Year | Title | Journal | PMID | Variants |
|---|