DMTF1

cyclin D binding myb like transcription factor 1, the group of Myb/SANT domain containing

Basic information

Region (hg38): 7:87152409-87196337

Links

ENSG00000135164 ∙ NCBI:9988 ∙ OMIM:608491 ∙ HGNC:14603 ∙ Uniprot:Q9Y222 ∙ 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 DMTF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMTF1 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	1	2
missense			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	1

Variants in DMTF1

This is a list of pathogenic ClinVar variants found in the DMTF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-87164993-T-C		not specified	Uncertain significance (Sep 06, 2022)
7-87165026-C-G		not specified	Uncertain significance (Jun 22, 2024)
7-87166486-C-T		not specified	Uncertain significance (Mar 22, 2022)
7-87166487-G-A			Likely benign (Jun 05, 2018)
7-87166587-T-G		not specified	Uncertain significance (Apr 03, 2023)
7-87171027-A-G		not specified	Uncertain significance (May 24, 2023)
7-87171060-G-A		not specified	Likely benign (Dec 19, 2023)
7-87173544-A-G		not specified	Uncertain significance (May 15, 2024)
7-87174658-C-A		not specified	Uncertain significance (Feb 28, 2024)
7-87174659-G-A		not specified	Uncertain significance (Mar 14, 2023)
7-87179579-T-C		not specified	Uncertain significance (Apr 12, 2024)
7-87179586-G-A		not specified	Uncertain significance (Jul 20, 2021)
7-87179671-C-T		not specified	Uncertain significance (May 23, 2024)
7-87184424-G-C		not specified	Uncertain significance (Aug 09, 2021)
7-87184517-G-T		not specified	Uncertain significance (Jun 16, 2023)
7-87184595-C-T		not specified	Uncertain significance (Jun 02, 2024)
7-87185892-G-C		not specified	Uncertain significance (Jan 24, 2023)
7-87188104-G-C		not specified	Uncertain significance (Jan 03, 2024)
7-87188111-A-T		not specified	Uncertain significance (Jul 05, 2023)
7-87188132-A-C		not specified	Uncertain significance (Oct 12, 2021)
7-87188136-A-C		not specified	Uncertain significance (Oct 26, 2021)
7-87188151-G-A		not specified	Uncertain significance (Sep 29, 2022)
7-87190981-C-A		not specified	Uncertain significance (May 23, 2023)
7-87191002-C-A		not specified	Uncertain significance (Feb 28, 2023)
7-87193274-C-T		not specified	Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMTF1	protein_coding	protein_coding	ENST00000394703	16	43977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.967	0.0329	125711	0	13	125724	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.20	281	406	0.692	0.0000203	5005
Missense in Polyphen		30	89.86	0.33385		1133
Synonymous	0.0717	141	142	0.992	0.00000738	1441
Loss of Function	4.96	7	41.5	0.169	0.00000234	443

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000109	0.0000879
Middle Eastern	0.000110	0.000109
South Asian	0.0000347	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1. {ECO:0000250, ECO:0000269|PubMed:12917399}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;AP-1 transcription factor network;Validated transcriptional targets of AP1 family members Fra1 and Fra2 (Consensus)

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.749
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.36

Haploinsufficiency Scores

• pHI: 0.561
• hipred: Y
• hipred_score: 0.704
• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.525

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmtf1
• Phenotype: neoplasm; 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); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); renal/urinary system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: regulation of transcription, DNA-templated;cell cycle;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;cytosol
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity