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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: achalasia, adrenocortical insufficiency, alacrimia
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000094914 AAAS 9606 - 12:53307456-53324864 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000209873 AAAS-001 53307456-53321631 protein_coding
  ENST00000394384 AAAS-002 53307459-53321596 protein_coding
  ENST00000546393 AAAS-013 53309157-53315127 retained_intron
  ENST00000546562 AAAS-005 53315424-53321610 retained_intron
  ENST00000546572 AAAS-014 53308962-53309862 retained_intron
  ENST00000547238 AAAS-018 53309650-53321208 retained_intron
  ENST00000547520 AAAS-022 53308747-53315243 retained_intron
  ENST00000547757 AAAS-012 53309160-53321581 protein_coding
  ENST00000547761 AAAS-010 53309157-53321983 processed_transcript
  ENST00000548258 AAAS-015 53314774-53324712 processed_transcript
  ENST00000548880 AAAS-017 53315552-53321560 retained_intron
  ENST00000548931 AAAS-020 53307490-53314815 protein_coding
  ENST00000549450 AAAS-009 53314400-53321257 processed_transcript
  ENST00000549821 AAAS-011 53314389-53321997 processed_transcript
  ENST00000549983 AAAS-021 53309255-53321616 processed_transcript
  ENST00000550033 AAAS-019 53307738-53309665 retained_intron
  ENST00000550286 AAAS-004 53307460-53324758 protein_coding
  ENST00000551724 AAAS-016 53314794-53324864 processed_transcript
  ENST00000552161 AAAS-023 53315244-53321560 retained_intron
  ENST00000552876 AAAS-003 53307457-53321257 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000209873ENST00000394384ENST00000547238ENST00000547520ENST00000547757ENST00000548258ENST00000548880ENST00000548931ENST00000549983ENST00000550033ENST00000552876
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000209873 6.095±0.00 7.106±0.00 N/A 0.582±0.00 N/A N/A 3.657±3.27 9.712±0.00 9.863±0.00 4.119±3.65 14.058±0.00 10.007±4.21 14.792±5.63 18.673±10.03
ENST00000394384 N/A N/A N/A 4.613±0.00 N/A 3.129±0.00 N/A N/A N/A N/A 0.251±0.00 5.066±0.00 N/A N/A
ENST00000547238 N/A N/A 0.214±0.00 1.389±0.00 0.712±0.00 0.392±0.00 0.197±0.00 0.320±0.00 0.822±0.00 N/A N/A N/A N/A N/A
ENST00000547520 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.299±0.00 N/A N/A N/A N/A
ENST00000547757 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.292±0.00 0.160±0.00 1.209±0.00 N/A N/A
ENST00000548258 N/A N/A 0.945±0.00 N/A 1.226±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000548880 N/A N/A N/A N/A 1.369±0.00 0.756±0.00 N/A N/A N/A N/A 0.223±0.00 N/A N/A N/A
ENST00000548931 N/A N/A 0.640±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 5.950±0.00 9.691±0.00 6.039±0.00
ENST00000549983 5.779±0.00 N/A 0.256±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000550033 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.288±0.00 N/A N/A N/A
ENST00000552876 2.180±0.00 2.050±0.00 N/A N/A N/A 0.909±0.00 N/A 2.771±1.34 N/A N/A N/A 8.562±0.00 N/A 3.435±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00060Q CIL_00060Q_0001 CGP 12:53299686-53324864
CIL_00060N CIL_00060N_0001 CGP 12:53307456-53345315

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000278 TAS mitotic cell cycle
GO:0003674 ND molecular_function
GO:0005515 IEA protein binding
GO:0005634 IDA nucleus
GO:0005635 TAS nuclear envelope
GO:0005643 IDA nuclear pore
GO:0005737 IDA cytoplasm
GO:0005813 IDA centrosome
GO:0005975 TAS carbohydrate metabolic process
GO:0006913 IDA nucleocytoplasmic transport
GO:0007077 TAS mitotic nuclear envelope disassembly
GO:0007612 IEA learning
GO:0008645 TAS hexose transport
GO:0009566 IEA fertilization
GO:0010827 TAS regulation of glucose transport
GO:0015031 IEA protein transport
GO:0015758 TAS glucose transport
GO:0016020 IDA membrane
GO:0016032 TAS viral process
GO:0019221 TAS cytokine-mediated signaling pathway
GO:0031965 IDA nuclear membrane
GO:0044281 TAS small molecule metabolic process
GO:0046822 NAS regulation of nucleocytoplasmic transport
GO:0051028 IEA mRNA transport
GO:0055085 TAS transmembrane transport

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000019547 aaas achalasia, adrenocortical insufficiency, alacrimia protein_coding Danio_rerio
ENSMUSG00000036678 Aaas achalasia, adrenocortical insufficiency, alacrimia protein_coding Mus_musculus

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