Aliases for MFF-DT Gene

Data sources for MFF-DT Gene:

RNA type for MFF-DT Gene

lncRNA

Aliases for MFF-DT Gene

External Ids for MFF-DT Gene

Summaries for MFF-DT Gene

GeneCards Summary for MFF-DT Gene

MFF-DT (MFF Divergent Transcript) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with MFF-DT include Autosomal Dominant Alport Syndrome and Autosomal Recessive Alport Syndrome.

Additional gene information for MFF-DT Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFF-DT Gene

Genomics for MFF-DT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MFF-DT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J227324 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.2 -0.3 -290 3.6 BCLAF1 SP1 ZNF207 ZNF600 IKZF1 MYC SIX5 ZNF580 ZNF592 ZMYM3 MFF MFF-DT HSALNG0022730 HSALNG0022732 IRS1 RHBDD1 STIP1P2 TM4SF20
GH02J227366 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 7.6 -43.5 -43490 6.8 JUND CEBPB ETV4 MAFK RAD51 CBFA2T2 TCF7 KDM1A EP300 RUNX3 MFF AGFG1 MFF-DT CCL20 TM4SF20 HSALNG0022736 STIP1P2
GH02J227311 Enhancer 0.7 dbSUPER 5.7 +12.9 12947 3 CEBPA FOXA2 KDM6A DMAP1 TEAD3 CREM FOXP1 SOX5 HMG20A LCORL MFF AGFG1 COL4A3 CCL20 MFF-DT piR-47628-099 HSALNG0022730 NONHSAG030692.2
GH02J227376 Enhancer 0.3 ENCODE 4.7 -50.4 -50401 0.1 ATF2 ATF7 AGFG1 MFF-DT HSALNG0022736 TM4SF20 STIP1P2 MFF
GH02J227364 Enhancer 0.2 Ensembl 6.8 -39.1 -39090 0.8 MFF MFF-DT TM4SF20 HSALNG0022736 STIP1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFF-DT on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for MFF-DT Gene

Latest Assembly
chr2:227,220,973-227,325,711
(GRCh38/hg38)
Size:
104,739 bases
Orientation:
Minus strand

Previous Assembly
chr2:228,085,768-228,189,880
(GRCh37/hg19 by Entrez Gene)
Size:
104,113 bases
Orientation:
Minus strand

chr2:228,085,768-228,189,917
(GRCh37/hg19 by Ensembl)
Size:
104,150 bases
Orientation:
Minus strand

Genomic View for MFF-DT Gene

Genes around MFF-DT on UCSC Golden Path with GeneCards custom track
MFF-DT in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
MFF-DT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFF-DT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFF-DT Gene

Proteins for MFF-DT Gene

Post-translational modifications for MFF-DT Gene

No Post-translational modifications

No data available for DME Specific Peptides for MFF-DT Gene

Domains & Families for MFF-DT Gene

Gene Families for MFF-DT Gene

genes like me logo Genes that share domains with MFF-DT: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MFF-DT Gene

Function for MFF-DT Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MFF-DT Gene

Localization for MFF-DT Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MFF-DT Gene

Pathways & Interactions for MFF-DT Gene

PathCards logo

SuperPathways for MFF-DT Gene

No Data Available

Gene Ontology (GO) - Biological Process for MFF-DT Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for MFF-DT Gene

Drugs & Compounds for MFF-DT Gene

No Compound Related Data Available

Transcripts for MFF-DT Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MFF-DT Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00001C2693_9606 lncRNA 2582 4

Ensembl: ENST00000439598 (view in UCSC) ,

LncBook: HSALNT0048209,

LNCipedia: lnc-TM4SF20-1:3,

NONCODE: NONHSAT077205.2,

URS00005B1085_9606 lncRNA 2214 4

Ensembl: ENST00000396588 (view in UCSC) ,

LncBook: HSALNT0048216,

LNCipedia: lnc-TM4SF20-1:2,

NONCODE: NONHSAT077207.2,

URS0000EF1D00_9606 lncRNA 6087 1

Ensembl: ENST00000433324 (view in UCSC) ,

URS0000EED260_9606 lncRNA 5648 1

Ensembl: ENST00000668704 (view in UCSC) ,

URS0000EF072C_9606 lncRNA 5277 1

Ensembl: ENST00000666788 (view in UCSC) ,

MFF-DT in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for MFF-DT Gene

2 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for MFF-DT Gene

No ASD Table

Relevant External Links for MFF-DT Gene

GeneLoc Exon Structure for
MFF-DT

Expression for MFF-DT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFF-DT

SOURCE GeneReport for Unigene cluster for MFF-DT Gene:

Hs.659982
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFF-DT Gene

Orthologs for MFF-DT Gene

Evolution for MFF-DT Gene

ENSEMBL:
Gene Tree for MFF-DT (if available)
TreeFam:
Gene Tree for MFF-DT (if available)
Alliance of Genome Resources:
Additional Orthologs for MFF-DT

No data available for Orthologs for MFF-DT Gene

Paralogs for MFF-DT Gene

No data available for Paralogs for MFF-DT Gene

Variants for MFF-DT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFF-DT Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1000072 Uncertain Significance: not provided 227,270,900(-) G/A
NM_000091.5(COL4A3):c.1706G>A (p.Gly569Glu)
MISSENSE
1005607 Uncertain Significance: not provided 227,263,822(-) G/A
NM_000091.5(COL4A3):c.1193G>A (p.Gly398Asp)
MISSENSE
1007588 Uncertain Significance: not provided 227,280,901(-) G/C
NM_000091.5(COL4A3):c.2383G>C (p.Gly795Arg)
MISSENSE
1008517 Uncertain Significance: not provided 227,263,858(-) G/A
NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu)
MISSENSE
1010699 Uncertain Significance: not provided 227,248,501(-) C/G
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MFF-DT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MFF-DT Gene

Variant ID Type Subtype PubMed ID
esv3584367 CNV loss 25503493
esv3594531 CNV loss 21293372
nsv1131556 CNV deletion 24896259
nsv478537 CNV novel sequence insertion 20440878
nsv521800 CNV loss 19592680
nsv584594 CNV gain 21841781

Additional Variant Information for MFF-DT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFF-DT
Leiden Open Variation Database (LOVD)
MFF-DT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MFF-DT Gene

Disorders for MFF-DT Gene

MalaCards: The human disease database

(9) MalaCards diseases for MFF-DT Gene - From: CVR and GCD

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MFF-DT: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for MFF-DT Gene

Publications for MFF-DT Gene

  1. A no-nonsense approach to hereditary kidney disease. (PMID: 31807928) Tokhmafshan F … Goodyer PR (Pediatric nephrology (Berlin, Germany) 2020) 72
  2. A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family. (PMID: 30881523) Xia L … Yin S (Disease markers 2019) 72
  3. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. (PMID: 28117080) Bierzynska A … Saleem MA (Kidney international 2017) 72
  4. Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. (PMID: 28542346) Liu JH … Li XJ (PloS one 2017) 72
  5. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. (PMID: 27281700) Kamiyoshi N … Iijima K (Clinical journal of the American Society of Nephrology : CJASN 2016) 72

No data available for Mastermind for MFF-DT Gene

Products for MFF-DT Gene

Sources for MFF-DT Gene