FAM32A

family with sequence similarity 32 member A, the group of Spliceosomal C complex|Spliceosomal P complex

Basic information

Region (hg38): 19:16185380-16192046

Links

ENSG00000105058 ∙ NCBI:26017 ∙ OMIM:614554 ∙ HGNC:24563 ∙ Uniprot:Q9Y421 ∙ 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 FAM32A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM32A 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in FAM32A

This is a list of pathogenic ClinVar variants found in the FAM32A region.

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

Position	Type	Phenotype	Significance	ClinVar
19-16185476-C-G		not specified	Uncertain significance (Oct 25, 2023)
19-16185646-G-A		not specified	Uncertain significance (Mar 06, 2025)
19-16185653-C-G		not specified	Uncertain significance (Jan 16, 2024)
19-16185687-G-C		not specified	Uncertain significance (Apr 06, 2022)
19-16185721-C-T		not specified	Uncertain significance (Mar 07, 2024)
19-16185763-C-T		not specified	Uncertain significance (Jul 31, 2024)
19-16185764-G-T		not specified	Uncertain significance (Aug 17, 2022)
19-16190896-A-G		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM32A	protein_coding	protein_coding	ENST00000263384	4	6667

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0303	0.821	124860	0	5	124865	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	29	60.1	0.482	0.00000285	722
Missense in Polyphen		2	7.5928	0.26341		115
Synonymous	0.479	22	25.1	0.878	0.00000137	185
Loss of Function	1.12	3	5.95	0.504	2.50e-7	80

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000171	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000177
Middle Eastern	0.000171	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli. {ECO:0000269|PubMed:21339736}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.530
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• pHI: 0.211
• hipred: Y
• hipred_score: 0.621
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam32a

Zebrafish Information Network

• Gene name: fam32a
• Affected structure: ventral mandibular arch
• Phenotype tag: abnormal
• Phenotype quality: increased thickness

Gene ontology

• Biological process: apoptotic process;cell cycle;biological_process
• Cellular component: nucleus;nucleolus
• Molecular function: RNA binding;protein binding