• 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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)