FHIP2B

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

Basic information

Region (hg38): 8:22089149-22104911

Previous symbols: [ "RAI16", "FAM160B2" ]

Links

ENSG00000158863 ∙ NCBI:64760 ∙ OMIM:620230 ∙ HGNC:16492 ∙ Uniprot:Q86V87 ∙ 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 FHIP2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FHIP2B 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			49	7		56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	7	0

Variants in FHIP2B

This is a list of pathogenic ClinVar variants found in the FHIP2B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-22089269-G-C		not specified	Uncertain significance (Feb 05, 2024)
8-22089293-G-C		not specified	Uncertain significance (Mar 31, 2024)
8-22094499-C-G		not specified	Uncertain significance (Mar 11, 2022)
8-22096348-C-T		not specified	Uncertain significance (Dec 26, 2023)
8-22096406-A-G		not specified	Uncertain significance (Sep 19, 2023)
8-22096433-G-A		not specified	Uncertain significance (Dec 19, 2022)
8-22096493-C-T		not specified	Uncertain significance (Jan 23, 2024)
8-22096507-G-A		not specified	Uncertain significance (Nov 07, 2022)
8-22097525-G-A		not specified	Uncertain significance (Dec 21, 2022)
8-22097747-G-A		not specified	Uncertain significance (May 16, 2023)
8-22097784-C-T		not specified	Uncertain significance (Jul 12, 2022)
8-22097786-G-A		not specified	Uncertain significance (Feb 15, 2023)
8-22097805-A-G		not specified	Uncertain significance (Feb 06, 2024)
8-22097825-G-A		not specified	Likely benign (May 30, 2023)
8-22098087-G-C		not specified	Uncertain significance (Sep 07, 2022)
8-22098167-G-A		not specified	Uncertain significance (Jul 06, 2021)
8-22098210-A-G		not specified	Uncertain significance (May 10, 2024)
8-22098254-G-T		not specified	Uncertain significance (Oct 18, 2021)
8-22098299-T-A		not specified	Uncertain significance (Oct 12, 2021)
8-22098559-G-A		not specified	Likely benign (Oct 12, 2021)
8-22098968-A-C		not specified	Uncertain significance (Dec 05, 2022)
8-22098981-C-G		not specified	Uncertain significance (Jun 17, 2024)
8-22099345-C-T		not specified	Uncertain significance (Nov 23, 2021)
8-22099358-C-A		not specified	Uncertain significance (Nov 21, 2023)
8-22099359-G-A		not specified	Uncertain significance (Jan 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FHIP2B	protein_coding	protein_coding	ENST00000289921	17	15740

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.83e-8	0.996	124583	0	61	124644	0.000245

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0755	427	431	0.990	0.0000268	4736
Missense in Polyphen		137	143	0.95806		1684
Synonymous	-1.27	220	197	1.11	0.0000135	1525
Loss of Function	2.60	18	34.5	0.522	0.00000164	401

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000733	0.000714
Ashkenazi Jewish	0.00	0.00
East Asian	0.000338	0.000334
Finnish	0.00	0.00
European (Non-Finnish)	0.000182	0.000177
Middle Eastern	0.000338	0.000334
South Asian	0.000561	0.000556
Other	0.000167	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.889
• rvis_EVS: -0.59
• rvis_percentile_EVS: 18.25

Haploinsufficiency Scores

• pHI: 0.149
• hipred: N
• hipred_score: 0.229
• ghis: 0.569

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0783

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam160b2