SRRD

SRR1 domain containing

Basic information

Region (hg38): 22:26483876-26494658

Links

ENSG00000100104 ∙ NCBI:402055 ∙ OMIM:602254 ∙ HGNC:33910 ∙ Uniprot:Q9UH36 ∙ 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 SRRD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRRD 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				1		1
missense			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5			5
Total	0	0	30	2	1

Variants in SRRD

This is a list of pathogenic ClinVar variants found in the SRRD region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-26483900-G-C		not specified	Uncertain significance (Jan 31, 2024)
22-26483919-A-G		not specified	Uncertain significance (Mar 18, 2024)
22-26483926-G-C		not specified	Uncertain significance (Aug 11, 2022)
22-26483946-A-G		not specified	Likely benign (Jul 26, 2022)
22-26483954-T-G		not specified	Uncertain significance (Sep 17, 2021)
22-26483964-G-A		not specified	Uncertain significance (Jan 30, 2024)
22-26483972-C-G		not specified	Uncertain significance (Jun 22, 2021)
22-26483980-GGAGGCGGCGCCCCGGGGGAGA-G		not specified	Benign (Mar 29, 2016)
22-26484006-C-T		not specified	Uncertain significance (Jun 19, 2024)
22-26484009-C-T		not specified	Uncertain significance (Mar 02, 2023)
22-26484030-C-T		not specified	Uncertain significance (Feb 16, 2023)
22-26484040-C-T			Likely benign (May 01, 2024)
22-26484041-C-A		not specified	Uncertain significance (Dec 22, 2023)
22-26484063-A-G		not specified	Uncertain significance (Apr 25, 2023)
22-26488074-C-A		not specified	Uncertain significance (Feb 05, 2024)
22-26488076-C-T		not specified	Uncertain significance (Apr 11, 2023)
22-26488083-G-A		not specified	Uncertain significance (May 05, 2023)
22-26488120-C-G		not specified	Uncertain significance (Oct 29, 2021)
22-26488143-T-C		not specified	Uncertain significance (Jan 02, 2024)
22-26488175-G-A		not specified	Uncertain significance (Jun 22, 2021)
22-26488232-T-G		not specified	Uncertain significance (May 20, 2024)
22-26488278-A-G		not specified	Uncertain significance (Sep 23, 2023)
22-26488486-G-A		not specified	Uncertain significance (Jun 07, 2023)
22-26490128-A-C		not specified	Uncertain significance (Dec 02, 2022)
22-26490160-G-A		not specified	Uncertain significance (Dec 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRRD	protein_coding	protein_coding	ENST00000215917	7	10782

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.80e-8	0.133	124692	0	102	124794	0.000409

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.452	171	155	1.10	0.00000763	2197
Missense in Polyphen		43	54.731	0.78566		694
Synonymous	0.697	51	57.7	0.883	0.00000302	662
Loss of Function	0.0482	12	12.2	0.985	5.14e-7	168

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00162	0.00162
Ashkenazi Jewish	0.00	0.00
East Asian	0.000168	0.000167
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000372	0.000371
Middle Eastern	0.000168	0.000167
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in a circadian clock input pathway. {ECO:0000250}.

Recessive Scores

• pRec: 0.0942

Intolerance Scores

• loftool: 0.836
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.140
• hipred: N
• hipred_score: 0.146
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.242

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Srrd

Gene ontology

• Biological process: microtubule-based process;circadian rhythm
• Cellular component: nucleus;cytoplasm