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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: split hand/foot malformation (ectrodactyly) type 1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000041111 Shfm1-001 ENSMUSG00000042541 10090 - 6:6557294-6578658 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000041111
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000041111 20.140±5.83 16.411±1.52 40.598±1.84 13.634±5.00 14.402±5.17 26.797±3.04 20.897±4.34 24.445±4.75 37.267±18.12 30.813±1.46 25.093±4.54 25.641±4.60 36.321±16.85 25.732±3.90

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00097Z CIL_00097Z_0002 VISTA 6:6016533-6617120
CIL_00078J CIL_00078J_0002 CGP 6:6041218-6578658
CIL_000980 CIL_000980_0002 VISTA 6:6063941-6664446
CIL_000981 CIL_000981_0002 VISTA 6:6158809-6759381
CIL_0007KR CIL_0007KR_0002 UCNEbase 6:6458887-6869817
CIL_0005E8 CIL_0005E8_0002 CGP 6:6557294-6868568

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000502 ISS proteasome complex
GO:0000724 IMP double-strand break repair via homologous recombination
GO:0005515 IPI protein binding
GO:0005634 IBA nucleus
GO:0006508 IBA proteolysis

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENST00000248566 SHFM1-003 protein_coding Homo_sapiens 0 357
ENST00000413065 SHFM1-006 protein_coding Homo_sapiens 0 228
ENST00000417009 SHFM1-008 protein_coding Homo_sapiens 0 231
ENST00000444799 SHFM1-007 protein_coding Homo_sapiens 0 230
ENST00000449279 SHFM1-004 nonsense_mediated_decay Homo_sapiens 0 228
ENST00000466986 SHFM1-002 nonsense_mediated_decay Homo_sapiens 0 228
ENST00000482389 SHFM1-010 retained_intron Homo_sapiens 0 268
ENST00000506694 SHFM1P1-001 processed_pseudogene Homo_sapiens 0 213
ENST00000613919 SHFM1-011 nonsense_mediated_decay Homo_sapiens 0 228
ENST00000617133 SHFM1-020 nonsense_mediated_decay Homo_sapiens 0 228
ENST00000618105 SHFM1-014 nonsense_mediated_decay Homo_sapiens 0 228
ENST00000619259 SHFM1-013 nonsense_mediated_decay Homo_sapiens 0 228
ENST00000623498 SHFM1-021 protein_coding Homo_sapiens 0 228
ENST00000623693 SHFM1-022 protein_coding Homo_sapiens 0 228

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