MIIP
Basic information
Region (hg38): 1:12019466-12032045
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 MIIP 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 | 4 | |||||
missense | 29 | 41 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 29 | 7 | 9 |
Variants in MIIP
This is a list of pathogenic ClinVar variants found in the MIIP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-12021752-A-G | not specified | Uncertain significance (Sep 17, 2021) | ||
1-12021767-A-G | not specified | Uncertain significance (Dec 21, 2023) | ||
1-12021815-G-A | not specified | Uncertain significance (Jan 04, 2024) | ||
1-12021838-G-A | Benign (Aug 18, 2017) | |||
1-12022099-G-A | not specified | Uncertain significance (Jun 16, 2024) | ||
1-12022150-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
1-12022174-C-T | not specified | Uncertain significance (Jun 03, 2024) | ||
1-12022186-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
1-12022188-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
1-12022189-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
1-12022209-C-T | not specified | Uncertain significance (Apr 28, 2022) | ||
1-12022215-G-T | not specified | Uncertain significance (Jan 07, 2022) | ||
1-12022248-T-G | not specified | Uncertain significance (Dec 13, 2023) | ||
1-12022263-C-T | not specified | Uncertain significance (Aug 22, 2023) | ||
1-12022289-G-T | not specified | Uncertain significance (Feb 12, 2024) | ||
1-12022306-C-T | not specified | Likely benign (Mar 14, 2023) | ||
1-12022327-C-T | not specified | Likely benign (Mar 05, 2024) | ||
1-12022378-A-G | not specified | Uncertain significance (Jul 21, 2021) | ||
1-12022861-C-T | not specified | Uncertain significance (May 04, 2022) | ||
1-12022872-A-G | not specified | Uncertain significance (May 02, 2024) | ||
1-12022882-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
1-12029068-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
1-12029085-C-G | Benign (May 08, 2018) | |||
1-12029106-A-G | Benign (May 08, 2018) | |||
1-12029779-C-T | not specified | Uncertain significance (Dec 03, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MIIP | protein_coding | protein_coding | ENST00000235332 | 9 | 12580 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.31e-20 | 0.000185 | 125506 | 1 | 238 | 125745 | 0.000951 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.224 | 257 | 247 | 1.04 | 0.0000162 | 2433 |
Missense in Polyphen | 73 | 71.224 | 1.0249 | 786 | ||
Synonymous | 0.750 | 95 | 105 | 0.907 | 0.00000645 | 842 |
Loss of Function | -1.17 | 27 | 21.2 | 1.27 | 0.00000122 | 208 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00257 | 0.00254 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00555 | 0.00556 |
Finnish | 0.0000940 | 0.0000924 |
European (Non-Finnish) | 0.000577 | 0.000563 |
Middle Eastern | 0.00555 | 0.00556 |
South Asian | 0.000396 | 0.000392 |
Other | 0.000496 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion. {ECO:0000269|PubMed:14617774}.;
Intolerance Scores
- loftool
- 0.953
- rvis_EVS
- 0.69
- rvis_percentile_EVS
- 85.24
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.146
- ghis
- 0.497
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.707
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Miip
- Phenotype
Gene ontology
- Biological process
- negative regulation of G2/M transition of mitotic cell cycle;negative regulation of cell migration
- Cellular component
- Molecular function
- protein binding