SUSD6
protein-codingsushi domain containing 6, the group of Sushi domain containing
Gene summary
Involved in DNA damage response. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA0247
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~103.5 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 SUSD6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014734.4. 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 | 1 | 3 | |||
| missense | 46 | 1 | 47 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 50 | 2 | 0 | 52 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055549.1 | 5 | MANE Select | |
| Ensembl | ENSP00000344424.4 | 5 | MANE Select | |
| Ensembl | ENSP00000523633.1 | 5 | Standard | |
| Ensembl | ENSP00000523633.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cellular response to DNA damage stimulus
- cell death
Molecular Function
- molecular_function
- protein binding
Cellular Component
- cellular_component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000342745
- Coding exons
- 5
- Length
- 103547
- Individuals with no LoFs
- 125730
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 12
- Defined
- 125742
- p
- 0.0000477
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.521 | 160 | 180 | 0.891 | 0.0000101 | 1928 |
| Missense (PolyPhen) | 54 | 66.412 | 0.8131 | 764 | ||
| Synonymous | -0.171 | 82 | 80.1 | 1.02 | 0.00000504 | 660 |
| Loss of Function | 2.65 | 2 | 11.8 | 0.169 | 5.01e-7 | 142 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000055 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000036 | 0.000035 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in growth-suppressive activity and cell death (PubMed:24652652). May be involved in the production of chemokine molecules in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium (PubMed:20236627). Plays a role in preventing tumor onset (By similarity). {ECO:0000250|UniProtKB:Q8BGE4, ECO:0000269|PubMed:20236627, ECO:0000269|PubMed:24652652}.;
Recessive Scores
- pRec
- 0.0937
Intolerance Scores
- RVIS EVS
- -0.18
- RVIS percentile EVS
- 40.36
Essentials
- Essential (gene trap)
- N