KIF20B
Basic information
Region (hg38): 10:89701590-89774939
Previous symbols: [ "MPHOSPH1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (239 variants)
- not_provided (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF20B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001284259.2. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 6 | |||||
missense | 222 | 18 | 241 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 222 | 22 | 3 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KIF20B | protein_coding | protein_coding | ENST00000260753 | 32 | 73334 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.74e-23 | 1.00 | 125495 | 0 | 250 | 125745 | 0.000995 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.603 | 893 | 844 | 1.06 | 0.0000420 | 11812 |
Missense in Polyphen | 319 | 331.78 | 0.96148 | 4842 | ||
Synonymous | -0.773 | 305 | 288 | 1.06 | 0.0000140 | 3058 |
Loss of Function | 4.15 | 53 | 97.2 | 0.545 | 0.00000533 | 1294 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00156 | 0.00152 |
Ashkenazi Jewish | 0.0000998 | 0.0000992 |
East Asian | 0.000695 | 0.000653 |
Finnish | 0.00125 | 0.00125 |
European (Non-Finnish) | 0.00130 | 0.00126 |
Middle Eastern | 0.000695 | 0.000653 |
South Asian | 0.000702 | 0.000653 |
Other | 0.00194 | 0.00163 |
dbNSFP
Source:
- Function
- FUNCTION: Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). {ECO:0000250|UniProtKB:Q80WE4, ECO:0000269|PubMed:11470801, ECO:0000269|PubMed:12740395, ECO:0000269|PubMed:17409436}.;
- Pathway
- Gastric Cancer Network 1;Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic
(Consensus)
Recessive Scores
- pRec
- 0.146
Intolerance Scores
- loftool
- 0.989
- rvis_EVS
- 1.96
- rvis_percentile_EVS
- 97.56
Haploinsufficiency Scores
- pHI
- 0.165
- hipred
- N
- hipred_score
- 0.458
- ghis
- 0.625
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.162
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Kif20b
- Phenotype
- limbs/digits/tail 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); digestive/alimentary phenotype; vision/eye phenotype; 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); cellular phenotype; craniofacial phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- neural tube closure;microtubule-based movement;cell cycle arrest;regulation of mitotic nuclear division;positive regulation of cell population proliferation;positive regulation of cytokinesis;protein localization to microtubule;neuron projection morphogenesis;cell division;positive regulation of intracellular protein transport;positive regulation of mitotic cytokinetic process;regulation of establishment of cell polarity;positive regulation of neuron migration
- Cellular component
- nucleus;nucleoplasm;nucleolus;cytoplasm;centrosome;kinesin complex;microtubule;growth cone;midbody;perinuclear region of cytoplasm;spindle midzone;contractile ring;mitotic spindle pole;mitotic spindle midzone
- Molecular function
- microtubule motor activity;protein binding;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity;protein homodimerization activity;WW domain binding