Information on JAGN1
Basic details
Alt. symbols: GL009 | FLJ14602
Approved name: jagunal homolog 1
Alt. names: jagunal homolog 1 (Drosophila)
Location: 3p25.3: 9890574 - 9894349 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.383000 | pLI: 0.02306273 | LOEUF: 1.350
Normal function
Dysfunction and disease
Neutropenia, severe congenital, 6, autosomal recessive [MIM:616022]. Biallelic mutations in JAGN1 cause severe congenital autosomal recessive neutropenia. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCN6 |
Severe congenital neutropenia 6 | AR |
616022 |
2 (1 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 JAGN1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000647897.1 | 1 | CCDS2588 | Select | protein_coding | 2 | Yes | 1637 | NM_001363890,NM_032492 |
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 JAGN1
| ID | Year | Title | Journal | PMID | Variants |
|---|