IGSF22
Geneimmunoglobulin superfamily member 22, the group of Fibronectin type III domain containing|I-set domain containing
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~21.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IGSF22 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173588.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 201 | 5 | 1 | 207 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 204 | 5 | 1 | 210 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_775859.4 | 22 | MANE Select | |
| Ensembl | ENSP00000421191.1 | 22 | MANE Select | |
| Ensembl | ENSP00000322422.6 | 17 | Standard | |
| RefSeq | XP_047282786.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- muscle contraction
- skeletal muscle thin filament assembly
- skeletal muscle myosin thick filament assembly
- sarcomere organization
- cardiac muscle fiber development
Molecular Function
- structural constituent of muscle
- actin filament binding
- muscle alpha-actinin binding
Cellular Component
- striated muscle thin filament
- sarcomere
- Z disc
- M band
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000513874
- Coding exons
- 22
- Length
- 21926
- Individuals with no LoFs
- 124415
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 691
- Defined
- 125107
- p
- 0.00277
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.20 | 688 | 782 | 0.880 | 0.0000457 | 8711 |
| Missense (PolyPhen) | 136 | 189.3 | 0.71842 | 2406 | ||
| Synonymous | 3.33 | 243 | 319 | 0.763 | 0.0000199 | 2617 |
| Loss of Function | -0.375 | 60 | 56.9 | 1.05 | 0.00000306 | 667 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0030 | 0.0030 | notable |
| Latino/Admixed American | 0.0010 | 0.0010 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0018 | 0.0018 | notable |
| Finnish | 0.00037 | 0.00037 | rare |
| European (Non-Finnish) | 0.0046 | 0.0046 | notable |
| South Asian | 0.00098 | 0.00098 | rare |
| Other | 0.0025 | 0.0025 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.984
- RVIS EVS
- 3.99
- RVIS percentile EVS
- 99.66
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.454
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |