SCAF4

SR-related CTD associated factor 4, the group of RNA binding motif containing

Basic information

Region (hg38): 21:31671000-31732118

Previous symbols: [ "SFRS15" ]

Links

ENSG00000156304 ∙ NCBI:57466 ∙ OMIM:616023 ∙ HGNC:19304 ∙ Uniprot:O95104 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Strong), mode of inheritance: AD
• complex neurodevelopmental disorder (Moderate), mode of inheritance: AD
• Fliedner-Zweier syndrome (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Fliedner-Zweier syndrome	AD	Cardiovascular	The condition can include cardiovascular as well as other congenital anomalies, and awareness may allow early diagnosis and management	Cardiovascular; Craniofacial; Musculoskeletal; Neurologic; Renal	32730804; 36333968; 37394306

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SCAF4 gene.

• Inborn_genetic_diseases (135 variants)
• not_provided (103 variants)
• Fliedner-Zweier_syndrome (16 variants)
• SCAF4-related_disorder (15 variants)
• not_specified (11 variants)
• Neurodevelopmental_disorder (3 variants)
• Intellectual_disability (2 variants)
• Complex_neurodevelopmental_disorder (2 variants)
• See_cases (2 variants)
• SCAF4-associated_mental_retardation (1 variants)
• Multicystic_kidney_dysplasia (1 variants)
• SLC39A8-CDG (1 variants)
• SCAF4-associated_Neurodevelopmental_disorder (1 variants)
• Rare_syndromic_intellectual_disability (1 variants)
• Abnormality_of_the_kidney (1 variants)
• Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCAF4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020706.2. 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			1	6		7
missense			187	31		218
nonsense	6	5	4			15
start loss						0
frameshift	11	5	5	1		22
splice donor/acceptor (+/-2bp)	2	4	3			9
Total	19	14	200	38	0

Highest pathogenic variant AF is 0.0000015190666

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SCAF4	protein_coding	protein_coding	ENST00000286835	20	61043

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.00e-8	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.94	518	658	0.787	0.0000363	7413
Missense in Polyphen		47	112.87	0.41641		1494
Synonymous	-0.890	245	228	1.07	0.0000130	2372
Loss of Function	6.92	2	59.6	0.0335	0.00000356	614

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000184	0.000184
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000551	0.0000544
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.0000706	0.0000703
Middle Eastern	0.0000551	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act to physically and functionally link transcription and pre-mRNA processing. {ECO:0000250}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: -1.21
• rvis_percentile_EVS: 5.68

Haploinsufficiency Scores

• pHI: 0.764
• hipred: Y
• hipred_score: 0.662
• ghis: 0.634

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• 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: Scaf4

Gene ontology

• Cellular component: nucleoplasm
• Molecular function: RNA binding