SUGP2

SURP and G-patch domain containing 2, the group of G-patch domain containing

Basic information

Region (hg38): 19:18990888-19034023

Previous symbols: [ "SFRS14" ]

Links

ENSG00000064607 ∙ NCBI:10147 ∙ OMIM:607993 ∙ HGNC:18641 ∙ Uniprot:Q8IX01 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SUGP2 gene.

• not_specified (136 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SUGP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001017392.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			130	6		136
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	130	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SUGP2	protein_coding	protein_coding	ENST00000601879	9	43136

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000549	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.662	573	619	0.925	0.0000366	7098
Missense in Polyphen		129	188.12	0.68574		2286
Synonymous	-0.480	252	242	1.04	0.0000149	2171
Loss of Function	5.50	3	41.0	0.0732	0.00000240	482

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000708	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000663	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in mRNA splicing. {ECO:0000305}.
• Pathway: mRNA Processing (Consensus)

Recessive Scores

• pRec: 0.0986

Intolerance Scores

• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.68

Haploinsufficiency Scores

• pHI: 0.479
• hipred: N
• hipred_score: 0.314
• ghis: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Sugp2

Gene ontology

• Biological process: mRNA processing;RNA splicing
• Cellular component: nucleoplasm;nuclear body
• Molecular function: RNA binding