ABITRAM

protein-coding

actin binding transcription modulator

Gene summary

Predicted to enable actin filament binding activity and actin monomer binding activity. Predicted to be involved in dendrite morphogenesis; regulation of actin filament polymerization; and regulation of filopodium assembly. Predicted to be located in growth cone. Predicted to be active in several cellular components, including dendrite; filopodium tip; and lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C9orf6
FAM206A

MANE transcript

NM_017832.4

Inheritance

—

ClinVar variants

U:28B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.85

Max pathogenic AF

—

Genomic locus

chr9:108,934,400-108,950,744

External References & Databases

Ensembl (ENSG00000119328)

Transcript & Mutation Effects

hg38 • Region Span ~16.3 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 ABITRAM variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 27

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017832.4. 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						0
missense			26 clinvar	1 clinvar		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	28	1	0	29

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017832.4	RefSeq	NP_060302.1	6	MANE Select
ENST00000322940.11	Ensembl	ENSP00000363753.3	6	MANE Select
NM_001410990.1	RefSeq	NP_001397919.1	4	Standard
ENST00000374624.7	Ensembl	ENSP00000363754.3	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of actin filament polymerization
dendrite morphogenesis
regulation of filopodium assembly

Molecular Function

actin monomer binding
protein binding
actin filament binding

Cellular Component

nuclear speck
lamellipodium
dendrite
growth cone
filopodium tip

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000322940
Coding exons: 6
Length: 16564
Individuals with no LoFs: 125678
Homozygous LoFs: 0
Heterozygous LoFs: 68
Defined: 125746
p: 0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0947	94	96.6	0.973	0.00000488	1164
Missense (PolyPhen)		20	27.08	0.73854		318
Synonymous	0.221	31	32.6	0.951	0.00000155	334
Loss of Function	0.469	9	10.7	0.845	5.37e-7	128

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00018	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00011	0.000099	rare
East Asian	0.00023	0.00022	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00037	0.00037	rare
South Asian	0.00040	0.00039	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons. {ECO:0000250|UniProtKB:Q80ZQ9}.;

Recessive Scores

pRec: 0.132

Intolerance Scores

RVIS EVS: 0.35
RVIS percentile EVS: 74.18

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
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