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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: split hand/foot malformation (ectrodactyly) type 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000127922 SHFM1 9606 - 7:96481626-96709891 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000248566 SHFM1-003 96687951-96709891 protein_coding
  ENST00000356686 SHFM1-201 96481626-96496342 protein_coding
  ENST00000413065 SHFM1-006 96673457-96709851 protein_coding
  ENST00000417009 SHFM1-008 96622562-96709861 protein_coding
  ENST00000444799 SHFM1-007 96649195-96709858 protein_coding
  ENST00000449279 SHFM1-004 96672564-96709880 nonsense_mediated_decay
  ENST00000466986 SHFM1-002 96486206-96709812 nonsense_mediated_decay
  ENST00000476463 SHFM1-009 96706222-96709873 processed_transcript
  ENST00000482389 SHFM1-010 96688769-96697372 retained_intron
  ENST00000488005 SHFM1-005 96673249-96709851 protein_coding
  ENST00000493858 SHFM1-001 96481626-96503523 processed_transcript
  ENST00000606019 SHFM1-015 96621657-96664338 processed_transcript
  ENST00000611360 SHFM1-012 96483713-96503510 processed_transcript
  ENST00000613919 SHFM1-011 96486273-96709775 nonsense_mediated_decay
  ENST00000615352 SHFM1-202 96481626-96496342 protein_coding
  ENST00000616956 SHFM1-019 96622430-96645932 processed_transcript
  ENST00000617133 SHFM1-020 96486272-96709775 nonsense_mediated_decay
  ENST00000618028 SHFM1-018 96645823-96664245 processed_transcript
  ENST00000618105 SHFM1-014 96486272-96709775 nonsense_mediated_decay
  ENST00000619259 SHFM1-013 96486272-96709775 nonsense_mediated_decay
  ENST00000622128 SHFM1-016 96645838-96664285 processed_transcript
  ENST00000622838 SHFM1-017 96645390-96664285 processed_transcript
  ENST00000623498 SHFM1-021 96645588-96709826 protein_coding
  ENST00000623693 SHFM1-022 96645391-96709780 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000248566ENST00000417009ENST00000444799ENST00000482389
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000248566 19.496±0.00 14.333±0.00 2.615±0.00 8.629±1.31 9.605±2.31 8.669±3.35 4.773±0.33 6.695±0.21 6.563±1.53 7.063±1.75 6.682±0.68 37.411±30.10 28.905±17.80 32.036±8.50
ENST00000417009 89.863±0.00 81.359±0.00 19.066±0.00 32.444±12.57 53.659±40.13 49.581±33.57 28.932±13.64 41.160±0.22 45.023±27.06 54.008±0.00 23.823±9.02 230.760±189.75 115.272±74.10 157.921±35.29
ENST00000444799 N/A N/A N/A 1.889±0.00 N/A N/A N/A N/A 1.793±0.00 2.419±0.00 N/A N/A N/A N/A
ENST00000482389 N/A 2.780±0.00 0.772±0.00 0.939±0.00 1.137±0.00 N/A N/A N/A N/A 2.110±0.00 N/A 1.608±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007W8 CIL_0007W8_0001 VISTA 7:95945535-96548789
CIL_00097Z CIL_00097Z_0001 VISTA 7:96146093-96746679
CIL_000980 CIL_000980_0001 VISTA 7:96195606-96796103
CIL_000981 CIL_000981_0001 VISTA 7:96291763-96892262

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000502 IDA proteasome complex
GO:0000724 IBA double-strand break repair via homologous recombination
GO:0005515 IPI protein binding
GO:0032039 IDA integrator complex

Homologs

No Homologs available.

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