SRFBP1

serum response factor binding protein 1

Basic information

Region (hg38): 5:121961975-122075570

Links

ENSG00000151304 ∙ NCBI:153443 ∙ OMIM:610479 ∙ HGNC:26333 ∙ Uniprot:Q8NEF9 ∙ 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 SRFBP1 gene.

• not_specified (61 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRFBP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152546.3. 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			59	2		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRFBP1	protein_coding	protein_coding	ENST00000339397	8	113610

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.13e-12	0.130	124709	0	81	124790	0.000325

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.62	276	210	1.31	0.0000101	2813
Missense in Polyphen		73	60.429	1.208		815
Synonymous	-1.73	92	73.1	1.26	0.00000342	785
Loss of Function	0.623	19	22.2	0.857	0.00000135	277

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000596	0.000596
Ashkenazi Jewish	0.00	0.00
East Asian	0.000283	0.000278
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000442	0.000433
Middle Eastern	0.000283	0.000278
South Asian	0.000164	0.000163
Other	0.000172	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity). {ECO:0000250|UniProtKB:Q9CZ91}.

Recessive Scores

• pRec: 0.137

Intolerance Scores

• loftool: 0.247
• rvis_EVS: 1.02
• rvis_percentile_EVS: 91.02

Haploinsufficiency Scores

• pHI: 0.0934
• hipred: N
• hipred_score: 0.396
• ghis: 0.472

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.275

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Srfbp1

Gene ontology

• Biological process: maturation of SSU-rRNA
• Cellular component: nucleus;90S preribosome;perinuclear region of cytoplasm
• Molecular function: RNA binding