UVSSA (UV stimulated scaffold protein A)

Download as csv Download as pdf

Log in to save this analysis

Save This Analysis

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 57654
• Gene name: UV stimulated scaffold protein A
• Gene symbol: UVSSA
• Synonyms (NCBI Gene): KIAA1530, UVSS3
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907163	A>G,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs387907164	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs778975867	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018930	hsa-miR-335-5p	Microarray	18185580
MIRT046480	hsa-miR-15b-5p	CLASH	23622248

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000993	Function	RNA polymerase II complex binding	IBA
GO:0000993	Function	RNA polymerase II complex binding	IDA	22466611, 22466612
GO:0000993	Function	RNA polymerase II complex binding	IMP	22466610
GO:0005515	Function	Protein binding	IPI	22466611, 22466612, 32296183
GO:0005634	Component	Nucleus	IDA	32355176
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IBA
GO:0005694	Component	Chromosome	IDA	22466611, 22466612
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IBA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	32355176, 34526721, 38316879, 38600235
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IMP	22466610, 22466611, 22466612
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009411	Process	Response to UV	IBA
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IMP	22466610, 22466611, 22466612
GO:0016567	Process	Protein ubiquitination	IMP	22466610
GO:0046872	Function	Metal ion binding	IEA
GO:0090734	Component	Site of DNA damage	IDA	32355176, 38316879
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	32355176
GO:0140870	Function	RNA polymerase inhibitor activity	IDA	38316879

Other IDs

• MIM: 614632
• HGNC: 29304
• e!Ensembl: ENSG00000163945

Protein

• UniProt ID: Q2YD98
• Protein name: UV-stimulated scaffold protein A
• Protein function: Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II-blocking lesions from the transcribed strand of active genes (PubMed:22466610, PubMed:22466611, PubMed:22466612, Pub
• PDB: 5XV8 , 7OO3 , 7OOP , 7OPC , 7OPD , 8B3D , 8B3G , 8QH5 , 9BZ0 , 9ER2 , 9FD2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09740	DUF2043	497 → 603	Uncharacterized conserved protein (DUF2043)	Family

• Sequence:

  MDQKLSKLVEELTTSGEPRLNPEKMKELKKICKSSEEQLSRAYRLLIAQLTQEHAEIRLS
  AFQIVEELFVRSHQFRMLVVSNFQEFLELTLGTDPAQPLPPPREAAQRLRQATTRAVEGW
  NEKFGEAYKKLALGYHFLRHNKKVDFQDTNARSLAERKREEEKQKHLDKIYQERASQAER
  EMQEMSGEIESCLTEVESCFRLLVPFDFDPNPETESLGMASGMSDALRSSCAGQVGPCRS
  GTPDPRDGEQPCCSRDLPASAGHPRAGGGAQPSQTATGDPSDEDEDSDLEEFVRSHGLGS
  HKYTLDVELCSEGLKVQENEDNLALIHAARDTLKLIRNKFLPAVCSWIQRFTRVGTHGGC
  LKRAIDLKAELELVLRKYKELDIEPEGGERRRTEALGDAEEDEDDEDFVEVPEKEGYEPH
  IPDHLRPEYGLEAAPEKDTVVRCLRTRTRMDEEVSDPTSAAAQLRQLRDHLPPPSSASPS
  RALPEPQEAQKLAAERARAPVVPYGVDLHYWGQELPTAGKIVKSDSQHRFWKPSEVEEEV
  VNADISEMLRSRHITFAGKFEPVQHWCRAPRPDGRLCERQDRLKCPFHGKIVPRDDEGRP
  LDPEDRAREQRRQLQKQERPEWQDPELMRDVEAATGQDLGSSRYSGKGRGKKRRYPSLTN
  LKAQADTARARIGRKVFAKAAVRRVVAAMNRMDQKKHEKFSNQFNYALN

• Sequence length: 709

Pathways

KEGG Pathway	Reactome Pathway
Nucleotide excision repair	Formation of TC-NER Pre-Incision Complex
	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
	Dual incision in TC-NER
	Gap-filling DNA repair synthesis and ligation in TC-NER

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
UV-sensitive syndrome 3	Pathogenic	rs387907163, rs778975867, rs387907164	RCV000024277 RCV000024278 RCV000024279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38685053	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	22466610, 22466610, 22466611, 22466612, 22466610, 22466612, 22466611, 22466612	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVSSA-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33482886	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	22902626, 23760561		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	31775559		★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	31775559		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22158537		★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	22466610, 22466611, 22466612, 23760561, 29323787, 31421932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	ORPHANET_DG	22466610, 22466611, 22466612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-sensitive syndrome	UV-Sensitive Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME 3	UV-Sensitive Syndrome	UNIPROT_DG	22466610, 22466611, 22466612		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UV-SENSITIVE SYNDROME 3	UV-Sensitive Syndrome	GENOMICS_ENGLAND_DG	22466610		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UV-SENSITIVE SYNDROME 3	UV-Sensitive Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ERCC8 1 shared diseaseUv-sensitive syndrome 5 shared pathwaysNucleotide excision repair, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER 6 shared evidence sourcesCTD (Uv-sensitive syndrome), Disgenet (Uv-sensitive syndrome), GenCC (Uv-sensitive syndrome), Orphanet (Uv-sensitive syndrome), ClinVar (Uv-sensitive syndrome), HPO (Uv-sensitive syndrome) Related via 5 shared pathways including Nucleotide excision repair, Formation of TC-NER Pre-Incision Complex — evidence mostly CTD. ERCC6 1 shared diseaseUv-sensitive syndrome 5 shared pathwaysNucleotide excision repair, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER 6 shared evidence sourcesCTD (Uv-sensitive syndrome), Disgenet (Uv-sensitive syndrome), GenCC (Uv-sensitive syndrome), Orphanet (Uv-sensitive syndrome), ClinVar (Uv-sensitive syndrome), HPO (Uv-sensitive syndrome) Related via 5 shared pathways including Nucleotide excision repair, Formation of TC-NER Pre-Incision Complex — evidence mostly CTD. HMGN1 4 shared pathwaysFormation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER Related via 4 shared pathways including Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER). ZNF830 4 shared pathwaysFormation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER Related via 4 shared pathways including Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER). ISY1-RAB43 4 shared pathwaysFormation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER Related via 4 shared pathways including Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER).

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ERCC8	1	["Uv-sensitive syndrome"]	5	["Nucleotide excision repair","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER"]	6	["CTD (Uv-sensitive syndrome)","Disgenet (Uv-sensitive syndrome)","GenCC (Uv-sensitive syndrome)","Orphanet (Uv-sensitive syndrome)","ClinVar (Uv-sensitive syndrome)","HPO (Uv-sensitive syndrome)"]
ERCC6	1	["Uv-sensitive syndrome"]	5	["Nucleotide excision repair","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER"]	6	["CTD (Uv-sensitive syndrome)","Disgenet (Uv-sensitive syndrome)","GenCC (Uv-sensitive syndrome)","Orphanet (Uv-sensitive syndrome)","ClinVar (Uv-sensitive syndrome)","HPO (Uv-sensitive syndrome)"]
HMGN1	0	[]	4	["Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER"]	0	[]
ZNF830	0	[]	4	["Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER"]	0	[]
ISY1-RAB43	0	[]	4	["Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesERCC8, HMGN1 Cockayne syndrome Linked via 2 of 5 related genesERCC8, ERCC6 Congenital neurologic anomalies Linked via 1 of 5 related genesERCC8 Deafness Linked via 1 of 5 related genesERCC8 Mitochondrial complex deficiency Linked via 1 of 5 related genesERCC8

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["ERCC8","HMGN1"]
Cockayne syndrome	2	["ERCC8","ERCC6"]
Congenital neurologic anomalies	1	["ERCC8"]
Deafness	1	["ERCC8"]
Mitochondrial complex deficiency	1	["ERCC8"]