KIFBP

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

Basic information

Region (hg38): 10:68988803-69043544

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

Links

ENSG00000198954 ∙ NCBI:26128 ∙ OMIM:609367 ∙ HGNC:23419 ∙ Uniprot:Q96EK5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Goldberg-Shprintzen megacolon syndrome	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Gastrointestinal; Neurologic	7338549; 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			6	30	2	38
missense			118	7		125
nonsense	5	2	1			8
start loss						0
frameshift	4	5	1			10
splice donor/acceptor (+/-2bp)		1				1
Total	9	8	126	37	2

Highest pathogenic variant AF is 0.000188377

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIFBP	protein_coding	protein_coding	ENST00000361983	7	28252

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0757	0.924	125674	0	73	125747	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	255	329	0.775	0.0000159	4074
Missense in Polyphen		68	91.641	0.74202		1174
Synonymous	1.57	104	127	0.822	0.00000597	1184
Loss of Function	3.42	7	25.7	0.272	0.00000116	346

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00278	0.00278
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000300	0.000299
Middle Eastern	0.000109	0.000109
South Asian	0.000100	0.0000980
Other	0.000327	0.000326

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

• 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_gene_trap: N

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