HINFP

histone H4 transcription factor, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 11:119121580-119136059

Previous symbols: [ "MIZF" ]

Links

ENSG00000172273 ∙ NCBI:25988 ∙ OMIM:607099 ∙ HGNC:17850 ∙ Uniprot:Q9BQA5 ∙ 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 HINFP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HINFP 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			32	1		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	1	0

Variants in HINFP

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

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

Position	Type	Phenotype	Significance	ClinVar
11-119126981-C-G		not specified	Uncertain significance (Jan 15, 2025)
11-119126999-T-A		not specified	Uncertain significance (Jan 15, 2025)
11-119127003-G-A		not specified	Uncertain significance (Jul 19, 2023)
11-119127020-T-C		not specified	Uncertain significance (Jan 15, 2025)
11-119127023-T-C		not specified	Uncertain significance (Jun 22, 2021)
11-119127089-G-A		not specified	Uncertain significance (Aug 12, 2021)
11-119127090-A-T		not specified	Uncertain significance (Sep 01, 2021)
11-119127118-C-A		not specified	Uncertain significance (Sep 11, 2024)
11-119127120-C-T		not specified	Uncertain significance (Aug 05, 2024)
11-119130766-T-C		not specified	Uncertain significance (May 24, 2023)
11-119130794-G-A		not specified	Uncertain significance (Aug 08, 2022)
11-119130916-A-G		not specified	Uncertain significance (Sep 10, 2024)
11-119131544-G-A		not specified	Uncertain significance (May 12, 2024)
11-119131623-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-119131866-G-A		not specified	Uncertain significance (Jul 19, 2023)
11-119131878-G-A		not specified	Uncertain significance (Dec 01, 2022)
11-119131948-C-A		not specified	Uncertain significance (Oct 29, 2021)
11-119132501-C-T		not specified	Uncertain significance (May 24, 2023)
11-119132546-C-A		not specified	Uncertain significance (May 11, 2022)
11-119132562-T-G		not specified	Uncertain significance (Aug 08, 2022)
11-119132729-C-G		not specified	Uncertain significance (Aug 10, 2024)
11-119132931-G-A		not specified	Uncertain significance (Feb 01, 2025)
11-119132994-G-A		not specified	Uncertain significance (Dec 05, 2024)
11-119133150-G-T		not specified	Uncertain significance (Aug 20, 2024)
11-119133164-G-A		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HINFP	protein_coding	protein_coding	ENST00000350777	9	14456

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0369	0.963	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.68	223	306	0.730	0.0000188	3437
Missense in Polyphen		56	101.15	0.55363		1014
Synonymous	-1.44	135	115	1.17	0.00000649	947
Loss of Function	3.51	8	28.1	0.285	0.00000161	292

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor that binds to the consensus sequence 5'-CGGACGTT-3' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter. {ECO:0000269|PubMed:11553631, ECO:0000269|PubMed:14585971, ECO:0000269|PubMed:14752047, ECO:0000269|PubMed:15988025, ECO:0000269|PubMed:17163457, ECO:0000269|PubMed:17974976, ECO:0000269|PubMed:18850719}.

Recessive Scores

• pRec: 0.166

Intolerance Scores

• loftool: 0.381
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.07

Haploinsufficiency Scores

• pHI: 0.153
• hipred: Y
• hipred_score: 0.825
• ghis: 0.603

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hinfp
• Phenotype: embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: hinfp
• Affected structure: ceratobranchial cartilage
• Phenotype tag: abnormal
• Phenotype quality: aplastic/hypoplastic

Gene ontology

• Biological process: DNA damage checkpoint;G1/S transition of mitotic cell cycle;regulation of transcription involved in G1/S transition of mitotic cell cycle;negative regulation of transcription by RNA polymerase II;in utero embryonic development;DNA repair;transcription, DNA-templated;regulation of transcription, DNA-templated;regulation of gene expression;positive regulation of gene expression;negative regulation of gene expression;establishment of protein localization;myoblast differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm;nucleolus;Cajal body
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;chromatin binding;DNA-binding transcription factor activity;transcription coactivator activity;protein binding;enzyme binding;histone binding;transcription regulatory region DNA binding;metal ion binding