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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: APH1B gamma secretase subunit
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000138613 APH1B 9606 + 15:63276018-63309126 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000261879 APH1B-001 63277554-63309126 protein_coding
  ENST00000380340 APH1B-003 63277610-63305801 nonsense_mediated_decay
  ENST00000380343 APH1B-002 63277610-63305801 protein_coding
  ENST00000558631 APH1B-007 63287181-63302493 retained_intron
  ENST00000559744 APH1B-010 63276034-63276852 processed_transcript
  ENST00000559823 APH1B-009 63287216-63305910 processed_transcript
  ENST00000559971 APH1B-004 63277681-63306326 nonsense_mediated_decay
  ENST00000560353 APH1B-005 63277618-63305801 protein_coding
  ENST00000560716 APH1B-008 63291686-63305904 processed_transcript
  ENST00000560890 APH1B-006 63276018-63305735 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000261879ENST00000380340ENST00000380343ENST00000559823ENST00000559971ENST00000560353ENST00000560716
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000261879 3.063±0.00 3.660±0.00 0.628±0.00 2.740±1.69 1.744±0.97 0.663±0.42 0.283±0.00 3.463±0.00 1.471±0.77 1.333±0.95 1.076±0.00 3.372±1.82 3.035±0.13 5.577±1.41
ENST00000380340 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 34.025±18.56
ENST00000380343 N/A N/A N/A N/A N/A 3.043±0.00 N/A N/A N/A N/A N/A N/A N/A 54.265±0.00
ENST00000559823 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 29.416±0.00
ENST00000559971 N/A N/A N/A N/A N/A 0.506±0.00 N/A N/A 0.601±0.00 N/A N/A N/A N/A N/A
ENST00000560353 N/A N/A 1.694±0.00 N/A N/A N/A N/A N/A 3.774±0.00 2.474±0.00 1.947±0.00 N/A N/A 16.975±0.00
ENST00000560716 N/A N/A N/A N/A N/A N/A 0.603±0.00 N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00094O CIL_00094O_0001 VISTA 15:62748846-63351985
CIL_00098V CIL_00098V_0001 VISTA 15:62790346-63394142

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005886 TAS plasma membrane
GO:0007219 TAS Notch signaling pathway
GO:0007220 TAS Notch receptor processing
GO:0008233 IDA peptidase activity
GO:0016021 IEA:IDA integral component of membrane
GO:0016485 IEA:IDA protein processing
GO:0030133 IDA transport vesicle
GO:0031293 TAS membrane protein intracellular domain proteolysis
GO:0043065 TAS positive regulation of apoptotic process
GO:0043085 IEA positive regulation of catalytic activity
GO:0048011 TAS neurotrophin TRK receptor signaling pathway
GO:0097190 TAS apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000005612 aph1b anterior pharynx defective 1B protein_coding Danio_rerio
ENSMUSG00000032375 Aph1b anterior pharynx defective 1b homolog (C. elegans) protein_coding Mus_musculus
ENSMUSG00000053040 Aph1c anterior pharynx defective 1c homolog (C. elegans) protein_coding Mus_musculus

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