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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Nance-Horan syndrome (congenital cataracts and dental anomalies)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000188158 NHS 9606 + X:17375420-17735994 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000380060 NHS-001 17375420-17735994 protein_coding
  ENST00000398097 NHS-003 17635293-17735978 protein_coding
  ENST00000485305 NHS-002 17719263-17724370 processed_transcript
  ENST00000615422 NHS-201 17686782-17735978 protein_coding
  ENST00000617601 NHS-202 17635293-17735991 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungOvaryPlacentaTestisENST00000380060ENST00000398097ENST00000485305ENST00000615422ENST00000617601
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Ovary Placenta Testis
ENST00000380060 0.264±0.00 0.356±0.00 0.851±0.00 0.142±0.04 0.122±0.00 0.215±0.00 0.126±0.00 1.367±0.00 1.445±0.00 0.360±0.04 0.174±0.08 0.116±0.01 0.472±0.18
ENST00000398097 N/A 0.505±0.00 0.328±0.00 N/A N/A 0.405±0.00 N/A 0.001±0.00 N/A N/A 0.143±0.05 0.269±0.00 1.782±0.00
ENST00000485305 N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.662±0.00 N/A N/A N/A
ENST00000615422 N/A N/A 0.328±0.00 N/A N/A N/A N/A N/A 0.266±0.00 0.155±0.00 N/A N/A N/A
ENST00000617601 N/A N/A N/A 0.778±0.00 N/A N/A 0.069±0.00 0.004±0.00 N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0002L3 CIL_0002L3_0002 CGP X:16946691-17735994

Gene Ontology
GO IDEvidence TypeGO Description
GO:0002088 IEA lens development in camera-type eye
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0005923 IEA tight junction
GO:0030154 IEA cell differentiation
GO:0042995 IEA cell projection

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000070227 nhsa Nance-Horan syndrome a (human) protein_coding Danio_rerio
ENSDARG00000079977 NHS (2 of 2) Nance-Horan syndrome (congenital cataracts and dental anomalies) protein_coding Danio_rerio
ENSMUSG00000059493 Nhs Nance-Horan syndrome (human) protein_coding Mus_musculus

Loading