C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Mediterranean fever
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000103313 MEFV 9606 - 16:3242028-3256627 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000219596 MEFV-001 3242028-3256627 protein_coding
  ENST00000339854 MEFV-010 3242028-3256627 protein_coding
  ENST00000536379 MEFV-004 3243141-3256587 protein_coding
  ENST00000536980 MEFV-009 3242028-3256627 nonsense_mediated_decay
  ENST00000537682 MEFV-006 3242028-3256627 nonsense_mediated_decay
  ENST00000538326 MEFV-007 3242028-3256627 nonsense_mediated_decay
  ENST00000539145 MEFV-003 3243141-3256587 nonsense_mediated_decay
  ENST00000539154 MEFV-005 3246410-3247967 retained_intron
  ENST00000541159 MEFV-002 3243141-3256587 protein_coding
  ENST00000542898 MEFV-008 3242028-3256627 nonsense_mediated_decay
  ENST00000570511 MEFV-015 3243141-3256587 nonsense_mediated_decay
  ENST00000572244 MEFV-012 3243141-3256587 nonsense_mediated_decay
  ENST00000574583 MEFV-014 3243141-3256587 nonsense_mediated_decay
  ENST00000576315 MEFV-013 3243141-3256587 nonsense_mediated_decay
  ENST00000621655 MEFV-201 3243141-3256587 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000219596ENST00000339854ENST00000536379ENST00000536980ENST00000537682ENST00000538326ENST00000539154ENST00000541159ENST00000570511ENST00000572244ENST00000574583ENST00000621655
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000219596 N/A N/A N/A 0.059±0.00 0.216±0.00 0.091±0.00 0.096±0.00 N/A 0.125±0.00 1.691±0.00 N/A 0.134±0.01 0.163±0.07 N/A
ENST00000339854 N/A N/A 0.028±0.00 0.251±0.00 0.366±0.00 N/A 0.219±0.00 N/A N/A N/A 0.072±0.00 0.099±0.02 0.148±0.00 N/A
ENST00000536379 1.045±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.147±0.00 N/A N/A
ENST00000536980 N/A 0.155±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.300±0.00
ENST00000537682 N/A N/A N/A N/A N/A N/A 0.299±0.00 N/A 0.053±0.00 2.473±0.00 N/A N/A 0.167±0.01 0.318±0.07
ENST00000538326 N/A 0.381±0.00 N/A 0.081±0.00 0.309±0.00 N/A N/A 0.272±0.00 N/A N/A N/A 0.117±0.00 N/A N/A
ENST00000539154 N/A 0.266±0.00 N/A 0.195±0.00 0.123±0.00 0.133±0.00 0.062±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000541159 N/A N/A N/A N/A N/A 0.140±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000570511 N/A N/A N/A 0.060±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000572244 N/A N/A 0.029±0.00 0.126±0.00 N/A N/A N/A N/A 0.190±0.00 N/A N/A N/A N/A N/A
ENST00000574583 N/A N/A N/A N/A N/A N/A N/A 0.182±0.00 N/A N/A N/A N/A N/A N/A
ENST00000621655 N/A N/A N/A N/A N/A 0.145±0.00 N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00029F CIL_00029F_0002 CGP 16:3222325-3256627
CIL_0001SW CIL_0001SW_0001 CGP 16:3242028-3301401

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003779 IDA actin binding
GO:0005515 IEA protein binding
GO:0005622 IEA intracellular
GO:0005634 IDA nucleus
GO:0005829 TAS cytosol
GO:0005874 IEA microtubule
GO:0005875 IDA microtubule associated complex
GO:0006954 IDA inflammatory response
GO:0008270 NAS:IEA zinc ion binding
GO:0032691 IMP negative regulation of interleukin-1 beta production
GO:0032695 IMP negative regulation of interleukin-12 production
GO:0035872 TAS nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0042995 IEA cell projection
GO:0045087 TAS innate immune response
GO:0050728 IMP negative regulation of inflammatory response
GO:0071641 IMP negative regulation of macrophage inflammatory protein 1 alpha production
GO:2001056 IDA positive regulation of cysteine-type endopeptidase activity

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000069407 zgc:194990 zgc:194990 protein_coding Danio_rerio
ENSDARG00000079703 si:dkey-18p12.4 si:dkey-18p12.4 protein_coding Danio_rerio
ENSDARG00000090930 si:ch211-120g10.1 si:ch211-120g10.1 protein_coding Danio_rerio
ENSDARG00000092931 si:ch211-114c12.5 si:ch211-114c12.5 protein_coding Danio_rerio
ENSDARG00000096739 si:ch211-222b21.3 si:ch211-222b21.3 protein_coding Danio_rerio
ENSDARG00000097100 si:ch73-364h19.2 si:ch73-364h19.2 protein_coding Danio_rerio
ENSMUSG00000022534 Mefv Mediterranean fever protein_coding Mus_musculus

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