KATNB1
Basic information
Region (hg38): 16:57735739-57757244
Links
Phenotypes
GenCC
Source:
- lissencephaly 6 with microcephaly (Moderate), mode of inheritance: AR
- lissencephaly 6 with microcephaly (Strong), mode of inheritance: AR
- lissencephaly 6 with microcephaly (Strong), mode of inheritance: AR
- microlissencephaly (Supportive), mode of inheritance: AR
- lissencephaly 6 with microcephaly (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Lissencephaly 6, with microcephaly | 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 | Neurologic | 25521378; 25521379 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
- Lissencephaly 6 with microcephaly (1 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KATNB1 gene is commonly pathogenic or not.
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.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 69 | 77 | ||||
missense | 89 | 17 | 110 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 4 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 8 | 17 | 4 | 29 | ||
non coding | 53 | 38 | 93 | |||
Total | 4 | 2 | 92 | 139 | 48 |
Variants in KATNB1
This is a list of pathogenic ClinVar variants found in the KATNB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-57736820-C-T | Benign (Jul 07, 2018) | |||
16-57736921-G-A | Likely benign (Aug 17, 2018) | |||
16-57737104-A-C | Likely benign (Feb 24, 2020) | |||
16-57737214-G-T | Benign (Jul 13, 2018) | |||
16-57737244-A-G | Lissencephaly 6 with microcephaly | Pathogenic (Dec 17, 2014) | ||
16-57737252-C-T | Likely benign (Sep 20, 2022) | |||
16-57737253-C-G | Inborn genetic diseases | Uncertain significance (May 24, 2023) | ||
16-57737263-C-T | Uncertain significance (Aug 15, 2022) | |||
16-57737290-G-A | Likely benign (Jun 27, 2022) | |||
16-57737290-G-C | Likely benign (Feb 14, 2023) | |||
16-57737425-A-G | Benign (Jul 13, 2018) | |||
16-57741390-G-A | Benign (Jul 21, 2018) | |||
16-57741418-A-G | Benign (Jul 06, 2018) | |||
16-57741440-G-A | Likely benign (Feb 05, 2019) | |||
16-57741460-A-G | Benign (Jul 06, 2018) | |||
16-57741625-C-T | Benign (Jul 13, 2018) | |||
16-57741669-C-G | Likely benign (Sep 19, 2022) | |||
16-57741688-A-C | Uncertain significance (Sep 27, 2022) | |||
16-57741694-C-T | KATNB1-related disorder | Likely benign (Aug 04, 2023) | ||
16-57741695-G-A | not specified | Uncertain significance (Jul 07, 2023) | ||
16-57741697-C-T | Likely benign (Apr 20, 2023) | |||
16-57741700-G-A | Benign (Dec 02, 2021) | |||
16-57741708-G-A | Lissencephaly 6 with microcephaly | Uncertain significance (Oct 31, 2023) | ||
16-57741712-C-T | KATNB1-related disorder | Benign/Likely benign (Jan 02, 2024) | ||
16-57741718-C-T | Likely benign (Nov 27, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KATNB1 | protein_coding | protein_coding | ENST00000379661 | 19 | 21521 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000145 | 1.00 | 125718 | 0 | 30 | 125748 | 0.000119 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.64 | 345 | 442 | 0.781 | 0.0000302 | 4243 |
Missense in Polyphen | 121 | 170.91 | 0.70797 | 1597 | ||
Synonymous | 0.0694 | 185 | 186 | 0.994 | 0.0000137 | 1308 |
Loss of Function | 3.45 | 15 | 37.9 | 0.396 | 0.00000208 | 382 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000119 | 0.000119 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000381 | 0.000381 |
Finnish | 0.0000468 | 0.0000462 |
European (Non-Finnish) | 0.000169 | 0.000167 |
Middle Eastern | 0.000381 | 0.000381 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth. {ECO:0000255|HAMAP-Rule:MF_03022, ECO:0000269|PubMed:10751153}.;
- Disease
- DISEASE: Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. {ECO:0000269|PubMed:25521378, ECO:0000269|PubMed:25521379}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.515
- rvis_EVS
- -0.51
- rvis_percentile_EVS
- 21.8
Haploinsufficiency Scores
- pHI
- 0.314
- hipred
- Y
- hipred_score
- 0.639
- ghis
- 0.517
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.905
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Katnb1
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular phenotype; liver/biliary system phenotype; embryo phenotype; hematopoietic system phenotype; reproductive system 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); vision/eye 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); skeleton phenotype;
Zebrafish Information Network
- Gene name
- katnb1
- Affected structure
- midbrain
- Phenotype tag
- abnormal
- Phenotype quality
- decreased size
Gene ontology
- Biological process
- protein targeting;microtubule depolymerization;negative regulation of microtubule depolymerization;mitotic chromosome movement towards spindle pole;positive regulation of cell death;positive regulation of neuron projection development;positive regulation of microtubule depolymerization;microtubule severing;cell division
- Cellular component
- spindle pole;nucleus;cytoplasm;centrosome;spindle;cytosol;microtubule;plasma membrane;katanin complex;microtubule cytoskeleton;membrane;growth cone;midbody;neuronal cell body
- Molecular function
- protein binding;microtubule binding;microtubule-severing ATPase activity;protein heterodimerization activity;dynein complex binding