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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: alpha thalassemia/mental retardation syndrome X-linked
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000085224 ATRX 9606 - X:77504878-77786269 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000373344 ATRX-001 77504878-77786269 protein_coding
  ENST00000395603 ATRX-002 77505713-77786216 protein_coding
  ENST00000400866 ATRX-007 77616245-77633321 protein_coding
  ENST00000460639 ATRX-006 77634422-77652150 retained_intron
  ENST00000479487 ATRX-008 77599735-77600755 retained_intron
  ENST00000480283 ATRX-003 77505713-77786216 nonsense_mediated_decay
  ENST00000493470 ATRX-005 77673954-77682141 protein_coding
  ENST00000622960 ATRX-012 77696688-77786233 protein_coding
  ENST00000623242 ATRX-016 77633353-77652276 nonsense_mediated_decay
  ENST00000623316 ATRX-018 77574257-77600540 nonsense_mediated_decay
  ENST00000623321 ATRX-009 77683507-77786225 protein_coding
  ENST00000623706 ATRX-011 77506905-77596875 retained_intron
  ENST00000624032 ATRX-004 77682305-77786208 protein_coding
  ENST00000624166 ATRX-010 77654158-77786220 protein_coding
  ENST00000624193 ATRX-014 77697603-77786204 processed_transcript
  ENST00000624403 ATRX-017 77620428-77633865 retained_intron
  ENST00000624668 ATRX-013 77684998-77786208 protein_coding
  ENST00000624766 ATRX-019 77508481-77522468 retained_intron
  ENST00000625063 ATRX-015 77684478-77698580 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000373344ENST00000395603ENST00000480283ENST00000623242ENST00000624032ENST00000624166
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000373344 1.546±0.00 N/A N/A 1.864±0.23 1.088±0.00 0.778±0.00 1.050±0.00 0.564±0.00 N/A N/A N/A 2.037±0.60 1.534±1.35 1.981±0.00
ENST00000395603 4.793±0.00 4.178±0.00 2.072±0.00 4.165±1.88 3.416±0.00 2.532±0.94 3.267±0.00 2.803±1.75 0.976±0.00 6.069±0.00 3.953±0.00 2.010±0.54 0.767±0.00 3.883±0.00
ENST00000480283 N/A N/A 0.978±0.00 N/A 5.066±0.00 N/A N/A N/A 6.663±0.00 N/A 0.747±0.00 3.334±0.00 2.336±1.98 1.877±1.13
ENST00000623242 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 26.570±0.00 34.209±0.00 26.433±0.00
ENST00000624032 N/A N/A 2.922±0.00 N/A 7.352±0.00 5.840±0.00 N/A 1.947±0.00 N/A 7.209±0.00 N/A 3.897±0.00 N/A N/A
ENST00000624166 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.593±0.00 3.156±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0001YN CIL_0001YN_0001 CGP X:77447405-77786269
CIL_0001YT CIL_0001YT_0001 CGP X:77504878-77895593

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000228 IEA nuclear chromosome
GO:0000792 IEA heterochromatin
GO:0003677 IEA DNA binding
GO:0003678 TAS DNA helicase activity
GO:0003682 IEA chromatin binding
GO:0004386 TAS helicase activity
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005634 IDA nucleus
GO:0005720 TAS nuclear heterochromatin
GO:0005730 IDA nucleolus
GO:0005737 IDA cytoplasm
GO:0005739 IDA mitochondrion
GO:0006200 IDA ATP catabolic process
GO:0006281 IEA DNA repair
GO:0006306 TAS DNA methylation
GO:0006310 TAS DNA recombination
GO:0006334 IDA nucleosome assembly
GO:0006336 IMP DNA replication-independent nucleosome assembly
GO:0006338 IDA chromatin remodeling
GO:0006351 IEA transcription, DNA-templated
GO:0006355 TAS regulation of transcription, DNA-templated
GO:0007283 IEA spermatogenesis
GO:0008270 IEA zinc ion binding
GO:0010571 ISS positive regulation of nuclear cell cycle DNA replication
GO:0015616 IDA DNA translocase activity
GO:0030330 ISS DNA damage response, signal transduction by p53 class mediator
GO:0030900 IEA forebrain development
GO:0031297 ISS replication fork processing
GO:0031933 ISS telomeric heterochromatin
GO:0032206 ISS positive regulation of telomere maintenance
GO:0032508 TAS DNA duplex unwinding
GO:0035064 IDA methylated histone binding
GO:0042393 IDA histone binding
GO:0045944 IMP positive regulation of transcription from RNA polymerase II promoter
GO:0060009 IEA Sertoli cell development
GO:0070087 IPI chromo shadow domain binding
GO:0070603 IDA SWI/SNF superfamily-type complex
GO:0072520 IEA seminiferous tubule development
GO:0072711 ISS cellular response to hydroxyurea
GO:1901581 ISS negative regulation of telomeric RNA transcription from RNA pol II promoter

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000042236 atrx alpha thalassemia/mental retardation syndrome X-linked homolog (human) protein_coding Danio_rerio
ENSMUSG00000031229 Atrx alpha thalassemia/mental retardation syndrome X-linked homolog (human) protein_coding Mus_musculus

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