Information on CCBE1
Basic details
Alt. symbols: FLJ30681 | KIAA1983
Approved name: collagen and calcium binding EGF domains 1
Alt. names: collagen and calciumbinding EGF domaincontaining protein 1 | full of fluid protein homolog
Location: 18q21.32: 59430939 - 59697662 (-)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.254000 | pLI: 0.00000167 | LOEUF: 1.006
Normal function
Dysfunction and disease
Hennekam lymphangiectasia-lymphedema syndrome 1 [MIM:235510] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HKLLS1 |
Hennekam lymphangiectasia-lymphedema syndrome | AR |
235510 |
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 CCBE1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000439986.9 | 1 | CCDS32838 | Select | protein_coding | 11 | Yes | 6271 | NM_133459 |
| 205 | ENST00000649564.1 | CCDS32838 | protein_coding | 12 | No | 6403 | XM_024451091 | ||
| 207 | ENST00000695904.1 | protein_coding | No | XM_017025557 |
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 CCBE1
| ID | Year | Title | Journal | PMID | Variants |
|---|