HHIPL2

HHIP like 2

Basic information

Region (hg38): 1:222522258-222548104

Previous symbols: [ "KIAA1822L" ]

Links

ENSG00000143512 ∙ NCBI:79802 ∙ OMIM:620214 ∙ HGNC:25842 ∙ Uniprot:Q6UWX4 ∙ 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 HHIPL2 gene.

• not_specified (111 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HHIPL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024746.4. 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			109	3	1	113
nonsense						0
start loss						0
frameshift					2	2
splice donor/acceptor (+/-2bp)						0
Total	0	0	109	3	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HHIPL2	protein_coding	protein_coding	ENST00000343410	9	25844

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.73e-23	0.000220	125127	2	618	125747	0.00247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.220	406	419	0.970	0.0000248	4705
Missense in Polyphen		155	163.18	0.9499		1946
Synonymous	0.0994	171	173	0.990	0.0000106	1460
Loss of Function	-0.577	32	28.7	1.12	0.00000172	325

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0206	0.0198
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00463	0.00458
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00142	0.00141
Middle Eastern	0.00463	0.00458
South Asian	0.000558	0.000555
Other	0.00198	0.00196

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0865

Intolerance Scores

• loftool: 0.959
• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.76

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.167

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hhipl2

Gene ontology

• Cellular component: extracellular region
• Molecular function: catalytic activity;protein binding