SRRD

protein-coding

SRR1 domain containing

Gene summary

Predicted to be involved in regulation of circadian rhythm and regulation of heme biosynthetic process. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001013694.3

Inheritance

—

ClinVar variants

U:70B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.99

Max pathogenic AF

—

Genomic locus

chr22:26,483,877-26,494,658

External References & Databases

Ensembl (ENSG00000100104)

Transcript & Mutation Effects

hg38 • Region Span ~10.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SRRD variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 66

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001013694.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			66 clinvar	4 clinvar		70
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	70	5	0	75

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001013694.3	RefSeq	NP_001013716.2	7	MANE Select
ENST00000215917.11	Ensembl	ENSP00000215917.6	7	MANE Select
ENST00000885114.1	Ensembl	ENSP00000555173.1	7	Standard
ENST00000885115.1	Ensembl	ENSP00000555174.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

microtubule-based process
circadian rhythm

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000215917
Coding exons: 7
Length: 10782
Individuals with no LoFs: 124692
Homozygous LoFs: 0
Heterozygous LoFs: 102
Defined: 124794
p: 0.000409

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.452	171	155	1.10	0.00000763	2197
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0.0014	0.0014	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00017	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00037	0.00037	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.242

Gene Damage Prediction

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