MIS12
Basic information
Region (hg38): 17:5486285-5490814
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIS12 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 | 0 | |||||
missense | 9 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 9 | 0 | 0 |
Variants in MIS12
This is a list of pathogenic ClinVar variants found in the MIS12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-5488885-A-G | not specified | Uncertain significance (Aug 16, 2021) | ||
17-5488930-G-A | not specified | Uncertain significance (Apr 12, 2023) | ||
17-5488940-T-G | not specified | Uncertain significance (Oct 17, 2023) | ||
17-5489018-C-G | not specified | Uncertain significance (Oct 05, 2021) | ||
17-5489080-G-T | not specified | Uncertain significance (Feb 03, 2022) | ||
17-5489137-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
17-5489149-A-T | not specified | Uncertain significance (Aug 08, 2023) | ||
17-5489248-A-C | not specified | Uncertain significance (Jun 19, 2024) | ||
17-5489310-G-T | not specified | Uncertain significance (Feb 08, 2023) | ||
17-5489323-A-G | not specified | Uncertain significance (Sep 16, 2021) | ||
17-5489344-A-T | not specified | Uncertain significance (Apr 08, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MIS12 | protein_coding | protein_coding | ENST00000381165 | 1 | 4530 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.147 | 0.785 | 125737 | 0 | 9 | 125746 | 0.0000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.645 | 90 | 109 | 0.826 | 0.00000572 | 1374 |
Missense in Polyphen | 17 | 37.057 | 0.45875 | 462 | ||
Synonymous | -1.54 | 55 | 42.3 | 1.30 | 0.00000236 | 362 |
Loss of Function | 1.48 | 2 | 5.88 | 0.340 | 2.49e-7 | 79 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000123 | 0.000123 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.000272 | 0.000272 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.000272 | 0.000272 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108). {ECO:0000269|PubMed:12515822, ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270, ECO:0000269|PubMed:23891108}.;
- Pathway
- Signal Transduction;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic
(Consensus)
Intolerance Scores
- loftool
- 0.427
- rvis_EVS
- -0.12
- rvis_percentile_EVS
- 44.89
Haploinsufficiency Scores
- pHI
- 0.344
- hipred
- Y
- hipred_score
- 0.583
- ghis
- 0.612
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.876
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mis12
- Phenotype
Gene ontology
- Biological process
- mitotic sister chromatid segregation;chromosome segregation;protein localization to kinetochore;cell division;attachment of mitotic spindle microtubules to kinetochore;kinetochore assembly
- Cellular component
- MIS12/MIND type complex;condensed chromosome kinetochore;nuclear MIS12/MIND complex;nucleus;cytosol
- Molecular function
- protein binding