FHIP2A

FHF complex subunit HOOK interacting protein 2A, the group of FHF complex|Armadillo like helical domain containing

Basic information

Region (hg38): 10:114821744-114899832

Previous symbols: [ "KIAA1600", "FAM160B1" ]

Links

ENSG00000151553 ∙ NCBI:57700 ∙ OMIM:617312 ∙ HGNC:29320 ∙ Uniprot:Q5W0V3 ∙ 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 FHIP2A gene.

• not_specified (60 variants)
• not_provided (3 variants)
• Syndromic_intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FHIP2A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020940.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			55	5		60
nonsense		1				1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	55	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FHIP2A	protein_coding	protein_coding	ENST00000369248	17	78089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00102	125726	0	12	125738	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.37	325	402	0.808	0.0000204	4987
Missense in Polyphen		68	128.01	0.5312		1611
Synonymous	-0.585	159	150	1.06	0.00000813	1469
Loss of Function	5.29	5	42.0	0.119	0.00000230	518

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.000112	0.000109
South Asian	0.0000986	0.0000980
Other	0.000340	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.0481
• rvis_EVS: -0.75
• rvis_percentile_EVS: 13.58

Haploinsufficiency Scores

• pHI: 0.150
• hipred: Y
• hipred_score: 0.565
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.455

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam160b1