Information on CIB1
Basic details
Alt. symbols: SIP2-28 | CIB | KIP
Approved name: calcium and integrin binding 1
Alt. names: calmyrin
Location: 15q26.1: 90229975 - 90234047 (-)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.629000 | pLI: 0.01610296 | LOEUF: 1.148
Normal function
Dysfunction and disease
Epidermodysplasia verruciformis 3 [MIM:618267]. In 24 patients from 6 families with epidermodysplasia verruciformis mapping to chromosome 15 (EV3; 618267), de Jong et al. (2018) identified homozygosity for mutations in the CIB1 gene. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
EV3 |
Epidermodysplasia verruciformis, susceptibility to, 3 | AR |
618267 |
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 CIB1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000612800.1 | CCDS73781 | protein_coding | 7 | No | 1096 | NM_001277764 | ||
| 201 | ENST00000328649.11 | CCDS10360 | Select | protein_coding | 7 | Yes | 1141 | NM_006384 |
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 CIB1
| ID | Year | Title | Journal | PMID | Variants |
|---|