SRARP

steroid receptor associated and regulated protein

Basic information

Region (hg38): 1:16004236-16008807

Previous symbols: [ "C1orf64" ]

Links

ENSG00000183888 ∙ NCBI:149563 ∙ OMIM:619448 ∙ HGNC:28339 ∙ Uniprot:Q8NEQ6 ∙ 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 SRARP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRARP gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRARP	protein_coding	protein_coding	ENST00000329454	2	4572

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.109	0.611	106421	0	3	106424	0.0000141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.108	98	101	0.970	0.00000577	1055
Missense in Polyphen		19	18.602	1.0214		253
Synonymous	-0.855	52	44.7	1.16	0.00000298	379
Loss of Function	0.281	1	1.35	0.739	5.74e-8	16

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000586	0.0000586
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000586	0.0000586
South Asian	0.0000431	0.0000431
Other	0.000199	0.000199

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate the transcriptional function of androgen and estrogen receptors. {ECO:0000269|PubMed:22341523, ECO:0000269|PubMed:28915724}.

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.146
• ghis: 0.425

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Srarp