DIDO1

death inducer-obliterator 1, the group of PHD finger proteins

Basic information

Region (hg38): 20:62877738-62937952

Previous symbols: [ "C20orf158", "DATF1" ]

Links

ENSG00000101191 ∙ NCBI:11083 ∙ OMIM:604140 ∙ HGNC:2680 ∙ Uniprot:Q9BTC0 ∙ 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 DIDO1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIDO1 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			1	7	6	14
missense			63	12	4	79
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	64	19	10

Variants in DIDO1

This is a list of pathogenic ClinVar variants found in the DIDO1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-62879374-G-A			Likely benign (Mar 01, 2024)
20-62879456-T-A		not specified	Uncertain significance (Aug 12, 2021)
20-62879717-T-C			Likely benign (May 09, 2018)
20-62880287-C-G		not specified	Uncertain significance (Aug 23, 2021)
20-62880465-G-A		not specified	Uncertain significance (Aug 10, 2021)
20-62880593-G-A		not specified	Uncertain significance (Aug 23, 2021)
20-62880765-C-T		not specified	Uncertain significance (Sep 01, 2021)
20-62880806-C-T			Benign (Jan 25, 2018)
20-62880840-G-C			Benign (Jan 30, 2018)
20-62881068-C-T			Benign (Mar 30, 2018)
20-62881109-G-A			Likely benign (Jan 25, 2018)
20-62881233-C-G		not specified	Uncertain significance (Oct 06, 2021)
20-62881246-G-A			Likely benign (Jul 01, 2022)
20-62881259-A-T		not specified	Uncertain significance (Oct 27, 2021)
20-62881463-T-G			Likely benign (Feb 09, 2018)
20-62881627-G-A			Benign (Jan 30, 2018)
20-62881669-C-T			Likely benign (Oct 01, 2022)
20-62881941-T-A			Benign (Dec 31, 2019)
20-62881983-T-G		not specified	Uncertain significance (Nov 05, 2021)
20-62882074-C-T			Likely benign (Jul 01, 2022)
20-62882265-C-T		not specified	Uncertain significance (Jul 09, 2021)
20-62882402-G-A		not specified	Uncertain significance (Nov 02, 2021)
20-62890975-G-A		not specified	Uncertain significance (Oct 17, 2023)
20-62890993-C-A		not specified	Uncertain significance (Mar 30, 2024)
20-62890996-G-A		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIDO1	protein_coding	protein_coding	ENST00000266070	14	60215

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	2.63e-7	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	1292	1.41e+3	0.918	0.0000972	14423
Missense in Polyphen		359	521.26	0.68871		5480
Synonymous	-2.03	681	617	1.10	0.0000498	4708
Loss of Function	7.31	8	77.3	0.103	0.00000454	893

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000460	0.000213
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.0000934	0.0000924
European (Non-Finnish)	0.000173	0.000141
Middle Eastern	0.000110	0.000109
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development. {ECO:0000250, ECO:0000269|PubMed:16127461}.

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.380
• rvis_EVS: -1.41
• rvis_percentile_EVS: 4.15

Haploinsufficiency Scores

• pHI: 0.591
• hipred: Y
• hipred_score: 0.527
• ghis: 0.602

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• 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: Dido1
• Phenotype: hematopoietic system phenotype; reproductive system 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); embryo phenotype; immune system phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: dido1
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: movement behavioral quality

Gene ontology

• Biological process: transcription, DNA-templated;apoptotic signaling pathway
• Cellular component: nucleus;cytoplasm;spindle
• Molecular function: RNA binding;metal ion binding