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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Bloom syndrome, RecQ helicase-like
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000197299 BLM 9606 + 15:90717327-90816165 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000355112 BLM-001 90717327-90816165 protein_coding
  ENST00000558599 BLM-007 90750008-90760822 processed_transcript
  ENST00000558825 BLM-005 90793801-90815361 retained_intron
  ENST00000559282 BLM-006 90747390-90749960 processed_transcript
  ENST00000559426 BLM-009 90762364-90769181 processed_transcript
  ENST00000559724 BLM-003 90717404-90815328 nonsense_mediated_decay
  ENST00000560136 BLM-004 90762396-90811327 processed_transcript
  ENST00000560509 BLM-002 90717394-90815333 protein_coding
  ENST00000560559 BLM-011 90790289-90794357 retained_intron
  ENST00000560821 BLM-010 90808771-90815629 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000355112ENST00000558825ENST00000559282ENST00000559426ENST00000559724ENST00000560136ENST00000560509ENST00000560559ENST00000560821
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000355112 0.111±0.00 N/A 0.069±0.00 0.097±0.00 N/A N/A N/A 0.046±0.03 0.043±0.00 0.044±0.00 N/A 0.642±0.10 0.524±0.00 0.761±0.00
ENST00000558825 N/A N/A N/A N/A 0.548±0.00 N/A N/A N/A N/A N/A N/A 0.406±0.32 N/A N/A
ENST00000559282 N/A N/A N/A N/A N/A 0.073±0.00 N/A N/A 0.214±0.17 N/A N/A N/A N/A N/A
ENST00000559426 N/A N/A N/A N/A N/A N/A N/A 0.093±0.00 N/A N/A N/A N/A N/A N/A
ENST00000559724 N/A 0.410±0.00 N/A 0.152±0.00 0.096±0.00 N/A N/A N/A N/A 0.288±0.00 N/A 0.843±0.67 0.475±0.30 0.997±0.00
ENST00000560136 N/A 0.775±0.00 N/A 0.675±0.44 N/A 0.451±0.31 1.547±1.14 N/A 0.399±0.00 N/A N/A 1.482±1.09 N/A 1.702±0.00
ENST00000560509 N/A N/A N/A 0.323±0.00 0.403±0.00 0.561±0.00 N/A N/A N/A 0.169±0.00 N/A 1.899±0.67 0.352±0.00 0.607±0.08
ENST00000560559 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.233±0.00 N/A N/A N/A N/A
ENST00000560821 0.225±0.00 1.261±0.00 N/A N/A 0.223±0.00 N/A 2.133±0.00 N/A N/A 0.107±0.00 0.440±0.00 1.127±0.00 N/A 2.174±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008AY CIL_0008AY_0001 VISTA 15:90522657-91123707

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000079 IMP regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0000166 IEA nucleotide binding
GO:0000228 IDA nuclear chromosome
GO:0000405 IDA bubble DNA binding
GO:0000723 IEA telomere maintenance
GO:0000724 NAS double-strand break repair via homologous recombination
GO:0000729 IDA DNA double-strand break processing
GO:0000733 IDA DNA strand renaturation
GO:0000781 IDA chromosome, telomeric region
GO:0000800 IDA lateral element
GO:0001673 IEA male germ cell nucleus
GO:0002039 IPI p53 binding
GO:0003676 IEA nucleic acid binding
GO:0003677 IEA DNA binding
GO:0003697 IDA single-stranded DNA binding
GO:0003824 IEA catalytic activity
GO:0004003 IMP ATP-dependent DNA helicase activity
GO:0004386 IDA helicase activity
GO:0005515 IPI protein binding
GO:0005524 IDA:IEA ATP binding
GO:0005622 IEA intracellular
GO:0005634 IDA:IEA nucleus
GO:0005657 IEA replication fork
GO:0005730 IDA nucleolus
GO:0005737 IEA cytoplasm
GO:0006200 IEA ATP catabolic process
GO:0006260 IEA DNA replication
GO:0006281 NAS:IEA DNA repair
GO:0006310 NAS:IEA DNA recombination
GO:0006974 IMP cellular response to DNA damage stimulus
GO:0007095 IDA mitotic G2 DNA damage checkpoint
GO:0008026 IDA:IEA ATP-dependent helicase activity
GO:0009378 IDA four-way junction helicase activity
GO:0010165 IDA response to X-ray
GO:0016363 IDA nuclear matrix
GO:0016605 IDA PML body
GO:0016818 IEA hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0016887 IDA ATPase activity
GO:0031297 IDA replication fork processing
GO:0032508 IEA DNA duplex unwinding
GO:0036310 IDA annealing helicase activity
GO:0043140 IEA ATP-dependent 3'-5' DNA helicase activity
GO:0044237 IEA cellular metabolic process
GO:0045120 IEA pronucleus
GO:0045893 IDA positive regulation of transcription, DNA-templated
GO:0045910 IMP negative regulation of DNA recombination
GO:0045950 IEA negative regulation of mitotic recombination
GO:0046632 IEA alpha-beta T cell differentiation
GO:0046641 IEA positive regulation of alpha-beta T cell proliferation
GO:0048478 NAS replication fork protection
GO:0051098 IEA regulation of binding
GO:0051259 IDA protein oligomerization
GO:0051276 IEA chromosome organization
GO:0051782 IMP negative regulation of cell division
GO:0051880 IDA G-quadruplex DNA binding
GO:0070244 IEA negative regulation of thymocyte apoptotic process
GO:0071479 IDA cellular response to ionizing radiation
GO:0072711 IDA cellular response to hydroxyurea
GO:0072757 IDA cellular response to camptothecin

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000077089 blm Bloom syndrome protein_coding Danio_rerio
ENSMUSG00000030528 Blm Bloom syndrome, RecQ helicase-like protein_coding Mus_musculus

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