KIFBP

kinesin family binding protein, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 10:68988803-69043544

Previous symbols: [ "KIAA1279", "KIF1BP" ]

Links

ENSG00000198954NCBI:26128OMIM:609367HGNC:23419Uniprot:Q96EK5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Goldberg-Shprintzen syndrome (Supportive), mode of inheritance: AR
  • Goldberg-Shprintzen syndrome (Definitive), mode of inheritance: AR
  • Goldberg-Shprintzen syndrome (Strong), mode of inheritance: AR
  • Goldberg-Shprintzen syndrome (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Goldberg-Shprintzen megacolon syndromeARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingGastrointestinal; Neurologic7338549; 10874640; 15883926

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIFBP gene.

  • not_specified (104 variants)
  • not_provided (99 variants)
  • Goldberg-Shprintzen_syndrome (54 variants)
  • KIFBP-related_disorder (5 variants)
  • Epilepsy (2 variants)
  • Peripheral_neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIFBP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015634.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
6
clinvar
30
clinvar
2
clinvar
38
missense
118
clinvar
7
clinvar
125
nonsense
5
clinvar
2
clinvar
1
clinvar
8
start loss
0
frameshift
4
clinvar
5
clinvar
1
clinvar
10
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 9 8 126 37 2

Highest pathogenic variant AF is 0.000188377

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIFBPprotein_codingprotein_codingENST00000361983 728252
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.07570.9241256740731257470.000290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.452553290.7750.00001594074
Missense in Polyphen6891.6410.742021174
Synonymous1.571041270.8220.000005971184
Loss of Function3.42725.70.2720.00000116346

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.002780.00278
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.0003000.000299
Middle Eastern0.0001090.000109
South Asian0.0001000.0000980
Other0.0003270.000326

dbNSFP

Source: dbNSFP

Function
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}.;

Recessive Scores

pRec
0.153

Intolerance Scores

loftool
rvis_EVS
-0.33
rvis_percentile_EVS
30.7

Haploinsufficiency Scores

pHI
0.144
hipred
Y
hipred_score
0.575
ghis
0.578

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Kif1bp
Phenotype
homeostasis/metabolism phenotype; craniofacial phenotype; muscle phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; liver/biliary system phenotype; embryo phenotype; immune system phenotype; vision/eye phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; respiratory system phenotype;

Zebrafish Information Network

Gene name
kif1bp
Affected structure
neuron
Phenotype tag
abnormal
Phenotype quality
disorganized

Gene ontology

Biological process
mitochondrial transport;nervous system development;cell differentiation
Cellular component
mitochondrion;cytoskeleton
Molecular function
protein binding;kinesin binding