MAML3

mastermind like transcriptional coactivator 3

Basic information

Region (hg38): 4:139716753-140154184

Previous symbols: [ "TNRC3" ]

Links

ENSG00000196782 ∙ NCBI:55534 ∙ OMIM:608991 ∙ HGNC:16272 ∙ Uniprot:Q96JK9 ∙ 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 MAML3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAML3 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	1

Variants in MAML3

This is a list of pathogenic ClinVar variants found in the MAML3 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-139719506-G-C		not specified	Uncertain significance (Jan 26, 2022)
4-139889445-C-T		not specified	Uncertain significance (Nov 10, 2022)
4-139889738-C-T		not specified	Uncertain significance (Jul 26, 2021)
4-139889767-T-C		not specified	Uncertain significance (Jan 09, 2024)
4-139889880-G-A		not specified	Uncertain significance (Feb 28, 2023)
4-139889909-T-TTGC			Benign (Dec 31, 2019)
4-139889992-T-C		not specified	Uncertain significance (Jan 03, 2024)
4-139890050-C-T		not specified	Uncertain significance (Jun 13, 2024)
4-139890111-G-A		not specified	Uncertain significance (Feb 05, 2024)
4-139890138-C-T		not specified	Uncertain significance (Oct 26, 2021)
4-139890157-G-A		not specified	Uncertain significance (Nov 12, 2021)
4-139890165-G-C		not specified	Uncertain significance (Feb 21, 2024)
4-139890220-G-A		not specified	Uncertain significance (Jun 03, 2024)
4-139890232-C-T		not specified	Uncertain significance (Jan 23, 2023)
4-139890265-C-T		not specified	Uncertain significance (Oct 17, 2023)
4-139890297-G-A		not specified	Uncertain significance (Apr 09, 2024)
4-139890511-A-G		not specified	Uncertain significance (May 23, 2024)
4-139890583-T-C		not specified	Uncertain significance (Mar 23, 2023)
4-139890604-G-A		not specified	Uncertain significance (Mar 15, 2024)
4-139890672-G-T		not specified	Uncertain significance (Jan 18, 2022)
4-139890858-C-A		not specified	Uncertain significance (Jun 26, 2023)
4-139890885-T-G		not specified	Uncertain significance (Jan 04, 2022)
4-139890955-C-T		not specified	Uncertain significance (May 13, 2024)
4-139890957-G-A		not specified	Uncertain significance (Dec 20, 2023)
4-140152949-C-T		not specified	Uncertain significance (May 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAML3	protein_coding	protein_coding	ENST00000509479	5	437432

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000155	22445	71581	31229	125255	0.577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.902	573	637	0.899	0.0000340	7480
Missense in Polyphen		178	213.07	0.83542		2575
Synonymous	1.19	233	257	0.906	0.0000154	2238
Loss of Function	5.68	5	47.0	0.106	0.00000248	423

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	2.15	1.63
Ashkenazi Jewish	1.51	0.663
East Asian	1.22	0.519
Finnish	1.55	0.643
European (Non-Finnish)	1.61	0.589
Middle Eastern	1.22	0.519
South Asian	1.51	0.686
Other	1.52	0.615

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.
• Pathway: Th1 and Th2 cell differentiation - Homo sapiens (human);Notch signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);NOTCH-Ncore;Notch Signaling Pathway;Pathways Affected in Adenoid Cystic Carcinoma;Canonical and Non-canonical Notch signaling;Notch Signaling Pathway;Notch Signaling Pathway;Notch;Disease;RUNX3 regulates NOTCH signaling;Signal Transduction;Gene expression (Transcription);Transcriptional regulation by RUNX3;Generic Transcription Pathway;RNA Polymerase II Transcription;Notch-HLH transcription pathway;Notch;NICD traffics to nucleus;Pre-NOTCH Transcription and Translation;Pre-NOTCH Expression and Processing;Signaling by NOTCH1;NOTCH2 intracellular domain regulates transcription;Signaling by NOTCH2;NOTCH3 Intracellular Domain Regulates Transcription;Signaling by NOTCH3;Signaling by NOTCH;TGF-beta super family signaling pathway canonical;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Signaling by NOTCH1 PEST Domain Mutants in Cancer;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer;Signaling by NOTCH1 in Cancer;BMP2 signaling TGF-beta MV;BMP signaling Dro;Diseases of signal transduction;NOTCH1 Intracellular Domain Regulates Transcription (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.595
• rvis_EVS: 0.03
• rvis_percentile_EVS: 55.83

Haploinsufficiency Scores

• pHI: 0.248
• hipred: N
• hipred_score: 0.492
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Maml3
• 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); embryo phenotype; normal 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); craniofacial phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: transcription initiation from RNA polymerase II promoter;Notch signaling pathway;positive regulation of transcription of Notch receptor target;positive regulation of Notch signaling pathway;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;nuclear speck
• Molecular function: transcription coactivator activity