Information on CDCA7
Basic details
Alt. symbols: FLJ14736 | JPO1
Approved name: cell division cycle associated 7
Alt. names: cell division cycleassociated protein 7 | cMyc target JPO1
Location: 2q31.1: 173354820 - 173368997 (+)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.734000 | pLI: 0.14195450 | LOEUF: 0.583
Normal function
Dysfunction and disease
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 [MIM:616910] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
ICF3 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | AR |
616910 |
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 CDCA7
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000306721.8 | CCDS2252 | Select | protein_coding | 10 | Yes | 2778 | NM_031942 | |
| 202 | ENST00000347703.7 | CCDS2253 | protein_coding | 9 | No | 2500 | NM_145810 | ||
| 212 | ENST00000695913.1 | nonsense_mediated_decay | No | XM_047445957 |
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 CDCA7
| ID | Year | Title | Journal | PMID | Variants |
|---|