KIFBP |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- KIFBP (HGNC:23419) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- kinesin family binding protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- KIAA1279, KIF1BP
- Alias symbols
- DKFZP586B0923, TTC20, KBP
- %HI
- 14.57(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.08(Read more about gnomAD pLI score)
- LOEUF
- 0.51(Read more about gnomAD LOEUF score)
- Cytoband
- 10q22.1
- Genomic Coordinates
-
GRCh37/hg19: chr10:70748559-70776738 NCBI Ensembl UCSC GRCh38/hg38: chr10:68988803-69016982 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015634.4 ENST00000361983.7 (Read more about MANE Select)
- Function
- Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975, ECO:0000269|PubMed:23427148}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25106
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Goldberg-Shprintzen syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)