GAS7

growth arrest specific 7, the group of F-BAR domain containing

Basic information

Region (hg38): 17:9910605-10198606

Links

ENSG00000007237 ∙ NCBI:8522 ∙ OMIM:603127 ∙ HGNC:4169 ∙ Uniprot:O60861 ∙ 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 GAS7 gene.

• not provided (43 variants)
• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAS7 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					3	3
missense			19		1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					39	39
Total	0	0	19	0	43

Variants in GAS7

This is a list of pathogenic ClinVar variants found in the GAS7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-9916961-T-C			Benign (Nov 11, 2018)
17-9917302-G-C		not specified	Uncertain significance (Oct 20, 2021)
17-9917341-T-A		not specified	Uncertain significance (Aug 17, 2022)
17-9917378-C-T			Benign (Jun 18, 2021)
17-9917422-A-G			Benign (Nov 11, 2018)
17-9917436-G-C			Benign (Jun 19, 2021)
17-9917514-C-A			Benign (Jun 19, 2021)
17-9917566-C-T			Benign (Jun 19, 2021)
17-9917806-C-G			Benign (Nov 11, 2018)
17-9917932-C-T			Benign (Jun 18, 2021)
17-9918135-C-T			Benign (Jun 19, 2021)
17-9918157-C-T			Benign (Nov 11, 2018)
17-9918268-T-C			Benign (Jun 19, 2021)
17-9918297-G-GA			Benign (Jun 20, 2021)
17-9918301-T-G			Benign (Jun 18, 2021)
17-9919441-T-C			Benign (Jun 18, 2021)
17-9919657-T-C		not specified	Uncertain significance (Oct 03, 2023)
17-9925187-C-CA			Benign (Jun 18, 2021)
17-9925199-C-T			Benign (Nov 11, 2018)
17-9925431-CCTT-C			Benign (Nov 11, 2018)
17-9925939-T-C			Benign (Nov 11, 2018)
17-9926316-C-T			Benign (Jun 18, 2021)
17-9926349-G-C			Benign (Nov 11, 2018)
17-9926364-G-A			Benign (Jun 18, 2021)
17-9926569-G-T			Benign (Nov 11, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GAS7	protein_coding	protein_coding	ENST00000432992	14	287943

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.852	0.148	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.33	184	297	0.619	0.0000180	3111
Missense in Polyphen		39	93.055	0.41911		1026
Synonymous	-0.637	130	121	1.07	0.00000769	882
Loss of Function	4.33	6	32.7	0.184	0.00000164	344

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000580	0.0000580
Ashkenazi Jewish	0.000107	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000543	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in promoting maturation and morphological differentiation of cerebellar neurons.
• Disease: DISEASE: Note=A chromosomal aberration involving GAS7 is found in acute myeloid leukemia. Translocation t(11;17)(q23;p13) with KMT2A/MLL1. {ECO:0000269|PubMed:10706619}.

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.418
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.54

Haploinsufficiency Scores

• pHI: 0.976
• hipred: Y
• hipred_score: 0.639
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.962

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gas7
• Phenotype: muscle phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: gas7a
• Affected structure: Rohon-Beard neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: regulation of transcription, DNA-templated;cell cycle arrest;actin filament polymerization;neuron differentiation;neuron projection morphogenesis
• Cellular component: cytoplasm;cytoskeleton;actin filament;plasma membrane
• Molecular function: DNA-binding transcription factor activity;protein binding;cytoskeletal protein binding;actin filament binding