ABITRAM

actin binding transcription modulator

Basic information

Region (hg38): 9:108934399-108950744

Previous symbols: [ "C9orf6", "FAM206A" ]

Links

ENSG00000119328 ∙ NCBI:54942 ∙ ∙ HGNC:1364 ∙ Uniprot:Q9NX38 ∙ 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 ABITRAM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABITRAM gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in ABITRAM

This is a list of pathogenic ClinVar variants found in the ABITRAM region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-108934491-C-T		not specified	Uncertain significance (Oct 02, 2023)
9-108936322-C-G		not specified	Uncertain significance (May 29, 2024)
9-108936386-C-G		not specified	Uncertain significance (Mar 13, 2023)
9-108936435-C-T		not specified	Uncertain significance (May 16, 2023)
9-108936436-G-A		not specified	Uncertain significance (Mar 07, 2024)
9-108939197-G-A		not specified	Uncertain significance (Sep 26, 2023)
9-108939251-G-A		not specified	Uncertain significance (Aug 12, 2022)
9-108939562-G-T		not specified	Uncertain significance (Dec 08, 2021)
9-108939568-T-C		not specified	Uncertain significance (Mar 03, 2022)
9-108939609-A-G		not specified	Uncertain significance (Jul 29, 2022)
9-108939636-T-C		not specified	Uncertain significance (Sep 14, 2022)
9-108939658-G-A		not specified	Uncertain significance (Dec 05, 2022)
9-108943762-G-C		not specified	Uncertain significance (May 11, 2022)
9-108943764-G-A		not specified	Uncertain significance (Jun 07, 2023)
9-108943808-G-C		not specified	Uncertain significance (Jan 23, 2024)
9-108943981-A-C		not specified	Uncertain significance (Sep 16, 2021)
9-108943990-G-A		not specified	Uncertain significance (Jan 30, 2024)
9-108943994-G-A		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABITRAM	protein_coding	protein_coding	ENST00000322940	6	16564

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000436	0.404	125678	0	68	125746	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0947	94	96.6	0.973	0.00000488	1164
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000317	0.000301
Ashkenazi Jewish	0.000106	0.0000992
East Asian	0.000225	0.000217
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000370	0.000369
Middle Eastern	0.000225	0.000217
South Asian	0.000397	0.000392
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0692
• hipred: N
• hipred_score: 0.350
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• 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: Fam206a

Gene ontology

• Biological process: regulation of actin filament polymerization;dendrite morphogenesis;regulation of filopodium assembly
• Cellular component: nuclear speck;lamellipodium;dendrite;growth cone;filopodium tip
• Molecular function: actin monomer binding;protein binding;actin filament binding