DDIT4L

DNA damage inducible transcript 4 like

Basic information

Region (hg38): 4:100185869-100190782

Links

ENSG00000145358 ∙ NCBI:115265 ∙ OMIM:607730 ∙ HGNC:30555 ∙ Uniprot:Q96D03 ∙ 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 DDIT4L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDIT4L 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in DDIT4L

This is a list of pathogenic ClinVar variants found in the DDIT4L region.

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

Position	Type	Phenotype	Significance	ClinVar
4-100187696-G-A		not specified	Uncertain significance (May 06, 2024)
4-100187729-A-G		not specified	Uncertain significance (Nov 09, 2021)
4-100187794-A-C		not specified	Uncertain significance (Feb 05, 2024)
4-100187867-A-G		not specified	Uncertain significance (Jan 09, 2024)
4-100187888-A-G		not specified	Uncertain significance (Nov 12, 2021)
4-100187945-C-A		not specified	Uncertain significance (Oct 25, 2022)
4-100187949-G-C		not specified	Uncertain significance (Apr 07, 2023)
4-100187966-G-A		not specified	Uncertain significance (Mar 04, 2024)
4-100188050-T-A		not specified	Uncertain significance (Oct 05, 2021)
4-100188073-C-A		not specified	Uncertain significance (Oct 10, 2023)
4-100188122-T-C		not specified	Uncertain significance (May 09, 2023)
4-100189911-G-A		not specified	Uncertain significance (Sep 15, 2021)
4-100189947-C-T		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDIT4L	protein_coding	protein_coding	ENST00000273990	2	4913

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000152	0.132	125638	0	104	125742	0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0938	105	102	1.03	0.00000537	1249
Missense in Polyphen		35	28.993	1.2072		357
Synonymous	0.247	39	41.0	0.951	0.00000229	386
Loss of Function	-0.576	8	6.43	1.25	3.36e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000960	0.0000909
Ashkenazi Jewish	0.00	0.00
East Asian	0.00414	0.00414
Finnish	0.00	0.00
European (Non-Finnish)	0.000199	0.000193
Middle Eastern	0.00414	0.00414
South Asian	0.000100	0.0000980
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1. {ECO:0000269|PubMed:15545625, ECO:0000269|PubMed:15632201}.
• Pathway: Target Of Rapamycin (TOR) Signaling (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.802
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.242
• hipred: N
• hipred_score: 0.282
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.616

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddit4l

Gene ontology

• Biological process: negative regulation of signal transduction
• Cellular component: cytoplasm
• Molecular function: protein binding