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
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000030838 Ush1c 10090 - 7:46195350-46238503 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000009667 Ush1c-001 46195357-46238503 protein_coding
  ENSMUST00000078680 Ush1c-004 46195350-46238492 protein_coding
  ENSMUST00000129266 Ush1c-006 46195670-46201770 retained_intron
  ENSMUST00000143155 Ush1c-002 46195357-46238490 nonsense_mediated_decay
  ENSMUST00000148527 Ush1c-005 46201026-46219767 processed_transcript
  ENSMUST00000154292 Ush1c-003 46195631-46238464 protein_coding
  ENSMUST00000176371 Ush1c-008 46195651-46230314 protein_coding
  ENSMUST00000177212 Ush1c-007 46195650-46238498 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000009667ENSMUST00000078680ENSMUST00000129266ENSMUST00000143155ENSMUST00000148527ENSMUST00000154292ENSMUST00000176371ENSMUST00000177212
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000009667 N/A N/A N/A N/A 0.014±0.00 N/A 1.948±0.01 N/A N/A N/A N/A N/A N/A
ENSMUST00000078680 N/A 0.029±0.00 0.004±0.00 0.039±0.00 0.113±0.00 34.853±4.99 23.294±0.67 0.058±0.03 0.139±0.10 0.451±0.09 0.248±0.00 0.746±0.48 1.120±0.62
ENSMUST00000129266 N/A N/A N/A N/A 0.045±0.01 N/A N/A 0.015±0.00 N/A N/A N/A N/A N/A
ENSMUST00000143155 N/A N/A N/A N/A N/A N/A N/A 0.007±0.00 N/A N/A N/A 0.061±0.00 N/A
ENSMUST00000148527 N/A N/A N/A N/A N/A N/A N/A 0.020±0.00 N/A N/A N/A N/A N/A
ENSMUST00000154292 N/A 0.024±0.01 N/A N/A N/A 5.305±0.00 N/A N/A 0.018±0.00 N/A 0.062±0.02 N/A 0.241±0.00
ENSMUST00000176371 N/A N/A 0.009±0.00 0.152±0.00 N/A N/A N/A 0.021±0.00 0.044±0.00 N/A 0.070±0.01 0.494±0.00 0.632±0.19
ENSMUST00000177212 0.024±0.00 N/A N/A N/A N/A N/A N/A 0.028±0.01 N/A N/A 0.145±0.06 0.201±0.13 0.866±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003ZZ CIL_0003ZZ_0002 CGP 7:46104523-46238503
CIL_0003ZY CIL_0003ZY_0002 CGP 7:46195350-46311434

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

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000051876 ush1c Usher syndrome 1C (autosomal recessive, severe) protein_coding Danio_rerio
ENSG00000006611 USH1C Usher syndrome 1C (autosomal recessive, severe) protein_coding Homo_sapiens

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