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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 Show/Hide all (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
PF00084 Sushi 239 → 294 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 179 → 234 Sushi repeat (SCR repeat) Domain
PF07645 EGF_CA 125 → 174 Calcium-binding EGF domain Domain
PF07645 EGF_CA 73 → 115 Calcium-binding EGF domain 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 Reference Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog 17362836
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM — GWAS catalog 30823506
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES — GWAS catalog 34311721
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM — GWAS catalog 23650146
★★★★★
★★☆☆☆
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