MIF4GD

MIF4G domain containing, the group of MIF4G domain containing proteins

Basic information

Region (hg38): 17:75266228-75271231

Previous symbols: [ "MIFD" ]

Links

ENSG00000125457 ∙ NCBI:57409 ∙ OMIM:612072 ∙ HGNC:24030 ∙ Uniprot:A9UHW6 ∙ 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 MIF4GD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIF4GD 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	13	0	0

Variants in MIF4GD

This is a list of pathogenic ClinVar variants found in the MIF4GD region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75266751-C-T		not specified	Uncertain significance (Sep 29, 2022)
17-75266901-T-C		not specified	Uncertain significance (Apr 18, 2023)
17-75267549-T-C		not specified	Uncertain significance (May 25, 2022)
17-75267575-C-T		not specified	Uncertain significance (Apr 04, 2024)
17-75267582-G-A		not specified	Uncertain significance (Jul 30, 2023)
17-75267796-C-G		not specified	Uncertain significance (Dec 14, 2023)
17-75267839-C-A		not specified	Uncertain significance (Sep 01, 2021)
17-75267864-C-T		not specified	Uncertain significance (Feb 12, 2024)
17-75268106-G-A		not specified	Uncertain significance (May 23, 2023)
17-75268170-C-G		not specified	Uncertain significance (Aug 21, 2023)
17-75269383-G-A		not specified	Uncertain significance (Mar 23, 2022)
17-75269397-T-C		not specified	Uncertain significance (Jun 18, 2021)
17-75270116-T-A		not specified	Uncertain significance (May 03, 2023)
17-75270175-C-G		not specified	Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIF4GD	protein_coding	protein_coding	ENST00000577542	6	5000

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.78e-9	0.143	125609	0	139	125748	0.000553

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.629	137	159	0.860	0.00000971	1722
Missense in Polyphen		41	51.399	0.79769		613
Synonymous	-0.787	71	63.0	1.13	0.00000365	511
Loss of Function	0.194	13	13.8	0.944	6.80e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000561	0.000560
Ashkenazi Jewish	0.00268	0.00268
East Asian	0.000489	0.000489
Finnish	0.000602	0.000601
European (Non-Finnish)	0.000555	0.000554
Middle Eastern	0.000489	0.000489
South Asian	0.000229	0.000229
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation. {ECO:0000269|PubMed:18025107}.

Intolerance Scores

• loftool: 0.538
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.0332
• hipred: N
• hipred_score: 0.216
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.974

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mif4gd

Gene ontology

• Biological process: regulation of translational initiation;positive regulation of translation
• Cellular component: nucleolus;cytosol
• Molecular function: RNA binding;protein binding;protein C-terminus binding;translation activator activity