AKAP17A

A-kinase anchoring protein 17A, the group of Pseudoautosomal region 1|A-kinase anchoring proteins

Basic information

Region (hg38): Y:1591604-1602520

Previous symbols: [ "CXYorf3", "SFRS17A" ]

Links

∙ NCBI:8227 ∙ OMIM:312095, 465000 ∙ HGNC:18783 ∙ Uniprot:Q02040 ∙ 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 AKAP17A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP17A 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP17A	protein_coding	protein_coding	ENST00000313871	4	10922

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.502	0.498	125582	0	7	125589	0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.279	446	463	0.963	0.0000356	4496
Missense in Polyphen		47	104.66	0.44908		1061
Synonymous	-2.82	259	207	1.25	0.0000164	1370
Loss of Function	2.84	3	14.8	0.203	8.10e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000318	0.0000318
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000443	0.0000353
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre- mRNA splicing in a PKA-dependent manner. {ECO:0000269|PubMed:16982639, ECO:0000269|PubMed:19840947}.;

Recessive Scores

pRec: 0.128

Intolerance Scores

loftool
rvis_EVS: -0.63
rvis_percentile_EVS: 16.78

Haploinsufficiency Scores

pHI: 0.171
hipred: N
hipred_score: 0.475
ghis: 0.606

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
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

Gene ontology

Biological process: regulation of transcription, DNA-templated;mRNA processing;signal transduction;RNA splicing;B cell activation;regulation of RNA splicing
Cellular component: nucleus;spliceosomal complex;cytosol;nuclear speck
Molecular function: RNA binding;protein binding;protein kinase A binding