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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: trichorhinophalangeal syndrome I
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000104447 TRPS1 9606 - 8:115408496-115809673 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000220888 TRPS1-002 115412549-115668702 protein_coding
  ENST00000395713 TRPS1-005 115619747-115661678 protein_coding
  ENST00000395715 TRPS1-001 115408496-115669001 protein_coding
  ENST00000422939 TRPS1-004 115619913-115809673 protein_coding
  ENST00000451156 TRPS1-003 115623611-115668294 protein_coding
  ENST00000517323 TRPS1-008 115587001-115667981 protein_coding
  ENST00000518018 TRPS1-011 115414429-115492221 protein_coding
  ENST00000519076 TRPS1-009 115413814-115620070 protein_coding
  ENST00000519674 TRPS1-007 115515190-115668903 protein_coding
  ENST00000519815 TRPS1-010 115619774-115669483 protein_coding
  ENST00000520276 TRPS1-006 115413922-115668007 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBladderBrainBreastHeartLiverLungMuscleOvaryPlacentaTestisENST00000220888ENST00000395715ENST00000518018ENST00000519076ENST00000519674ENST00000520276
Transcript ID Adrenal Bladder Brain Breast Heart Liver Lung Muscle Ovary Placenta Testis
ENST00000220888 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.498±0.00
ENST00000395715 0.210±0.00 1.820±0.00 1.149±0.84 1.098±0.18 0.323±0.25 2.385±0.00 N/A N/A 0.881±0.52 0.099±0.00 0.560±0.00
ENST00000518018 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.705±0.21 11.008±0.00
ENST00000519076 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.987±0.00
ENST00000519674 N/A N/A 2.141±0.00 3.327±0.00 N/A N/A 3.681±0.00 0.698±0.00 N/A N/A N/A
ENST00000520276 N/A N/A N/A N/A N/A N/A 1.875±0.00 1.156±0.00 0.696±0.00 0.132±0.00 2.028±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005RP CIL_0005RP_0001 CGP 8:112222928-115809673
CIL_00097I CIL_00097I_0001 VISTA 8:115118467-115720299
CIL_0005RQ CIL_0005RQ_0001 CGP 8:115408496-116766925

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000122 IDA negative regulation of transcription from RNA polymerase II promoter
GO:0001501 TAS skeletal system development
GO:0002062 IEA chondrocyte differentiation
GO:0003700 IEA sequence-specific DNA binding transcription factor activity
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0006355 IEA regulation of transcription, DNA-templated
GO:0006366 TAS transcription from RNA polymerase II promoter
GO:0006607 TAS NLS-bearing protein import into nucleus
GO:0007178 IEA transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0008270 IEA zinc ion binding
GO:0031063 IEA regulation of histone deacetylation
GO:0032330 ISS regulation of chondrocyte differentiation
GO:0043565 IEA sequence-specific DNA binding
GO:0045892 IEA negative regulation of transcription, DNA-templated
GO:0046872 IEA metal ion binding
GO:1902043 IEA positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000068028 trps1 trichorhinophalangeal syndrome I protein_coding Danio_rerio
ENSMUSG00000038679 Trps1 trichorhinophalangeal syndrome I (human) protein_coding Mus_musculus

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