SCAF8

protein-coding

SR-related CTD associated factor 8, the group of RNA binding motif containing

Gene summary

Enables RNA binding activity and RNA polymerase II C-terminal domain phosphoserine binding activity. Involved in negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled and positive regulation of DNA-templated transcription, elongation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

RBM16

MANE transcript

NM_014892.5

Inheritance

—

ClinVar variants

U:153B:6

Top phenotype

Autism spectrum disorder

gnomAD constraint

pLI —, LoF o/e 0.03

Max pathogenic AF

—

Genomic locus

chr6:154,733,378-154,834,244

External References & Databases

Ensembl (ENSG00000213079)

Transcript & Mutation Effects

hg38 • Region Span ~100.9 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 SCAF8 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 147

not providedTotal: 3

Autism spectrum disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014892.5. 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			2 clinvar			2
missense			145 clinvar	5 clinvar		150
nonsense			1 clinvar			1
start loss						0
frameshift			3 clinvar	1 clinvar		4
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	153	6	0	159

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014892.5	RefSeq	NP_055707.3	20	MANE Select
ENST00000367178.8	Ensembl	ENSP00000356146.3	20	MANE Select
NM_001286188.1	RefSeq	NP_001273117.1	21	Standard
NM_001286189.1	RefSeq	NP_001273118.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

termination of RNA polymerase II transcription
mRNA polyadenylation
RNA splicing

Molecular Function

RNA polymerase II complex binding
mRNA binding
protein binding
RNA polymerase core enzyme binding

Cellular Component

nucleoplasm
spliceosomal complex
cytoplasm
nuclear matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367178
Coding exons: 20
Length: 100734
Individuals with no LoFs: 125556
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125559
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.90	560	702	0.798	0.0000369	8245
Missense (PolyPhen)		164	219.65	0.74663		2540
Synonymous	-2.62	293	241	1.21	0.0000127	2570
Loss of Function	7.27	2	65.5	0.0305	0.00000383	709

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000088	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in mRNA processing. {ECO:0000269|PubMed:11101529}.;

Intolerance Scores

RVIS EVS: -0.95
RVIS percentile EVS: 9.34

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): K
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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