PABPC1L2A

poly(A) binding protein cytoplasmic 1 like 2A, the group of RNA binding motif containing

Basic information

Region (hg38): X:73077275-73079512

Previous symbols: [ "RBM32A" ]

Links

ENSG00000186288 ∙ NCBI:340529 ∙ ∙ HGNC:27989 ∙ Uniprot:Q5JQF8 ∙ 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 PABPC1L2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PABPC1L2A 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in PABPC1L2A

This is a list of pathogenic ClinVar variants found in the PABPC1L2A region.

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

Position	Type	Phenotype	Significance	ClinVar
X-73079229-G-C		not specified	Uncertain significance (Mar 12, 2024)
X-73079316-G-A		not specified	Uncertain significance (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PABPC1L2A	protein_coding	protein_coding	ENST00000373519	1	2237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.350	0.495	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	2	12.0	0.166	7.82e-7	1313
Missense in Polyphen		1	4.4091	0.22681		462
Synonymous	-0.196	6	5.42	1.11	3.65e-7	393
Loss of Function	0.733	0	0.626	0.00	3.98e-8	53

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Pathway: RNA degradation - Homo sapiens (human);mRNA surveillance pathway - Homo sapiens (human);RNA transport - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.142

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.180
• ghis: 0.564

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Mouse Genome Informatics

• Gene name: Pabpc1l2b-ps

Gene ontology

• Cellular component: nucleus;cytoplasm;cytosol;cytoplasmic stress granule;extracellular exosome;ribonucleoprotein complex
• Molecular function: RNA binding;mRNA 3'-UTR binding;poly(A) binding;poly(U) RNA binding