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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Usher syndrome 1C (autosomal recessive, severe)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000006611 USH1C 9606 - 11:17493895-17544416 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000005226 USH1C-006 17494332-17544307 protein_coding
  ENST00000318024 USH1C-001 17493895-17544416 protein_coding
  ENST00000526181 USH1C-008 17522883-17533874 protein_coding
  ENST00000526313 USH1C-002 17493895-17544402 nonsense_mediated_decay
  ENST00000527020 USH1C-003 17493900-17544400 protein_coding
  ENST00000527551 USH1C-010 17494162-17496913 retained_intron
  ENST00000527720 USH1C-005 17493897-17533510 protein_coding
  ENST00000529563 USH1C-009 17493965-17516622 processed_transcript
  ENST00000530700 USH1C-011 17514441-17520962 processed_transcript
  ENST00000534556 USH1C-012 17501072-17502049 retained_intron
  ENST00000624811 USH1C-007 17493900-17495093 TEC

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungOvaryPlacentaTestisENST00000005226ENST00000318024ENST00000526181ENST00000526313ENST00000527020ENST00000529563ENST00000534556ENST00000624811
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Ovary Placenta Testis
ENST00000005226 N/A 0.170±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000318024 N/A 0.714±0.00 N/A 3.328±2.47 0.684±0.00 2.528±0.63 N/A 12.746±0.00 N/A N/A 8.488±11.23 N/A 0.823±0.00
ENST00000526181 0.019±0.00 N/A N/A N/A 0.039±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000526313 N/A N/A 1.327±0.00 0.319±0.00 N/A N/A N/A N/A 0.238±0.00 N/A N/A N/A N/A
ENST00000527020 N/A N/A N/A N/A 0.166±0.13 1.444±0.13 N/A 7.911±0.00 N/A 0.045±0.00 3.014±0.00 N/A N/A
ENST00000529563 N/A N/A N/A 23.374±0.00 N/A 5.833±0.00 N/A 13.129±0.00 N/A 0.128±0.00 0.205±0.00 N/A 1.178±0.75
ENST00000534556 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.238±0.00 N/A
ENST00000624811 0.083±0.00 N/A N/A N/A N/A N/A 0.048±0.00 N/A 0.550±0.00 0.158±0.00 N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003ZZ CIL_0003ZZ_0001 CGP 11:17392885-17544416
CIL_0003ZY CIL_0003ZY_0001 CGP 11:17493895-17647150

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000086 IMP G2/M transition of mitotic cell cycle
GO:0001750 IEA photoreceptor outer segment
GO:0001917 IEA photoreceptor inner segment
GO:0005515 IPI:IEA protein binding
GO:0005737 IDA cytoplasm
GO:0005856 IEA cytoskeleton
GO:0005886 IEA plasma membrane
GO:0007605 IMP sensory perception of sound
GO:0030046 IEA parallel actin filament bundle assembly
GO:0030507 IDA spectrin binding
GO:0032029 IEA myosin tail binding
GO:0032420 TAS stereocilium
GO:0042472 IEA inner ear morphogenesis
GO:0042491 IEA auditory receptor cell differentiation
GO:0045177 IDA apical part of cell
GO:0045202 IEA synapse
GO:0045494 IMP photoreceptor cell maintenance
GO:0050885 IEA neuromuscular process controlling balance
GO:0050953 IMP sensory perception of light stimulus
GO:0050957 IMP equilibrioception
GO:0051017 IEA actin filament bundle assembly

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000051876 ush1c Usher syndrome 1C (autosomal recessive, severe) protein_coding Danio_rerio
ENSMUSG00000030838 Ush1c Usher syndrome 1C protein_coding Mus_musculus

Loading