Gene Gene information from NCBI Gene database.
Entrez ID 64420
Gene name Sushi domain containing 1
Gene symbol SUSD1
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q31.3-q32
miRNA miRNA information provided by mirtarbase database.
214
miRTarBase ID miRNA Experiments Reference
MIRT023738 hsa-miR-1-3p Microarray 18668037
MIRT722097 hsa-miR-7109-3p HITS-CLIP 19536157
MIRT722096 hsa-miR-6819-3p HITS-CLIP 19536157
MIRT722095 hsa-miR-6877-3p HITS-CLIP 19536157
MIRT722094 hsa-miR-3120-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWL2
Protein name Sushi domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA 73 115 Calcium-binding EGF domain Domain
PF07645 EGF_CA 125 174 Calcium-binding EGF domain Domain
PF00084 Sushi 179 234 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 239 294 Sushi repeat (SCR repeat) Domain
PF18861 PTP_tm 606 746 Transmembrane domain of protein tyrosine phosphatase, receptor type J Family
Sequence
MGRGPWDAGPSRRLLPLLLLLGLARGAAGAPGPDGLDVCATCHEHATCQQREGKKICICN
YGFVGNGRTQCVDKNECQFGATLVCGNHTSCHNTPGGFYCICLEGYRATNNNKTFIPNDG
TFCTDIDECEVSGLCRHGGRCVNTHGSFECYCMDGYLPRNGPEPFHPTTDATSCTEIDCG
TPPEVPDGYIIGNYTSSLGSQVRYACREGFFSVPEDTVSSCTGLGTWESPKLHC
QEINCG
NPPEMRHAILVGNHSSRLGGVARYVCQEGFESPGGKITSVCTEKGTWRESTLTC
TEILTK
INDVSLFNDTCVRWQINSRRINPKISYVISIKGQRLDPMESVREETVNLTTDSRTPEVCL
ALYPGTNYTVNISTAPPRRSMPAVIGFQTAEVDLLEDDGSFNISIFNETCLKLNRRSRKV
GSEHMYQFTVLGQRWYLANFSHATSFNFTTREQVPVVCLDLYPTTDYTVNVTLLRSPKRH
SVQITIATPPAVKQTISNISGFNETCLRWRSIKTADMEEMYLFHIWGQRWYQKEFAQEMT
FNISSSSRDPEVCLDLRPGTNYNVSLRALSSELPVVISLTTQITEPPLPEVEFFTVHRGP
LPRLRLRKAKEKNGPISSYQVLVLPLALQSTFSCDSEGASSFFSNASDADGYVAAELLAK
DVPDDAMEIPIGDRLYYGEYYNAPLKRGSDYCIILRITSEWNKVRRHSCAVWAQVKDSSL
MLLQMAGVGLGSLAVVIILTFLSFSA
V
Sequence length 747
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Intracranial Aneurysm Intracranial Aneurysm GWASCAT_DG 30823506
★☆☆☆☆
Found in Text Mining only
Venous Thromboembolism Venous thromboembolism Pubtator 23650146 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations