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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: breast cancer 1, early onset
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000012048 BRCA1 9606 - 17:43044295-43125483 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000352993 BRCA1-029 43044295-43125370 protein_coding
  ENST00000354071 BRCA1-012 43091098-43125315 protein_coding
  ENST00000357654 BRCA1-001 43044295-43125370 protein_coding
  ENST00000412061 BRCA1-026 43093570-43095866 non_stop_decay
  ENST00000461221 BRCA1-010 43045678-43125288 nonsense_mediated_decay
  ENST00000461574 BRCA1-022 43076537-43091824 protein_coding
  ENST00000461798 BRCA1-020 43099831-43125370 nonsense_mediated_decay
  ENST00000468300 BRCA1-007 43044805-43125451 protein_coding
  ENST00000470026 BRCA1-011 43093584-43125323 protein_coding
  ENST00000471181 BRCA1-005 43045629-43125483 protein_coding
  ENST00000472490 BRCA1-021 43067274-43071066 retained_intron
  ENST00000473961 BRCA1-018 43094170-43104891 protein_coding
  ENST00000476777 BRCA1-017 43095846-43125353 protein_coding
  ENST00000477152 BRCA1-004 43093586-43125364 protein_coding
  ENST00000478531 BRCA1-009 43063344-43125359 protein_coding
  ENST00000484087 BRCA1-015 43063344-43104916 protein_coding
  ENST00000487825 BRCA1-019 43076488-43104916 protein_coding
  ENST00000489037 BRCA1-016 43104189-43125321 protein_coding
  ENST00000491747 BRCA1-014 43045678-43125356 protein_coding
  ENST00000492859 BRCA1-002 43094112-43125300 nonsense_mediated_decay
  ENST00000493795 BRCA1-006 43045629-43125402 protein_coding
  ENST00000493919 BRCA1-008 43063360-43125402 protein_coding
  ENST00000494123 BRCA1-013 43094112-43125450 protein_coding
  ENST00000497488 BRCA1-003 43094112-43125300 protein_coding
  ENST00000586385 BRCA1-023 43045563-43125329 protein_coding
  ENST00000591534 BRCA1-024 43045563-43125329 protein_coding
  ENST00000591849 BRCA1-025 43045563-43125329 protein_coding
  ENST00000618469 BRCA1-027 43124026-43125364 protein_coding
  ENST00000621897 BRCA1-028 43076488-43082760 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLungMuscleOvaryPlacentaTestisENST00000352993ENST00000354071ENST00000357654ENST00000412061ENST00000461221ENST00000461574ENST00000468300ENST00000471181ENST00000472490ENST00000476777ENST00000484087ENST00000493919ENST00000591534ENST00000618469
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Lung Muscle Ovary Placenta Testis
ENST00000352993 N/A 0.383±0.00 N/A N/A 0.344±0.00 N/A 0.147±0.00 N/A N/A 0.268±0.00 0.631±0.48 2.872±1.77
ENST00000354071 N/A N/A 0.181±0.00 0.477±0.00 0.636±0.00 N/A 0.260±0.00 0.341±0.00 0.024±0.00 1.370±0.98 N/A N/A
ENST00000357654 N/A 0.090±0.00 N/A N/A N/A 0.202±0.01 0.065±0.00 0.260±0.11 0.210±0.00 2.104±0.83 0.854±0.00 3.392±0.00
ENST00000412061 N/A N/A N/A N/A N/A 0.254±0.00 N/A N/A N/A N/A N/A N/A
ENST00000461221 N/A N/A 0.070±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000461574 N/A N/A N/A N/A N/A N/A N/A N/A N/A 12.177±0.00 N/A 9.858±0.00
ENST00000468300 N/A N/A N/A N/A N/A 0.389±0.00 N/A 0.288±0.00 N/A N/A N/A N/A
ENST00000471181 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.637±0.00 N/A N/A
ENST00000472490 N/A 1.517±0.00 N/A N/A N/A N/A 1.024±0.00 N/A 0.958±0.00 N/A N/A N/A
ENST00000476777 N/A N/A 0.958±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000484087 0.333±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000493919 N/A N/A N/A 0.677±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000591534 N/A N/A N/A N/A N/A N/A 0.576±0.00 N/A N/A 0.785±0.00 N/A N/A
ENST00000618469 N/A 1.111±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00061F CIL_00061F_0001 CGP 17:43025241-43125483
CIL_00040M CIL_00040M_0001 CGP 17:43044295-43211689

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000151 NAS ubiquitin ligase complex
GO:0000724 IDA double-strand break repair via homologous recombination
GO:0000793 IEA condensed chromosome
GO:0000794 IEA condensed nuclear chromosome
GO:0003677 TAS:IEA DNA binding
GO:0003684 IEA damaged DNA binding
GO:0003713 NAS transcription coactivator activity
GO:0003723 IDA RNA binding
GO:0004842 IEA:IDA ubiquitin-protein transferase activity
GO:0005515 IPI:IEA protein binding
GO:0005634 IDA:IEA nucleus
GO:0005654 TAS nucleoplasm
GO:0005694 ISS chromosome
GO:0005737 IDA cytoplasm
GO:0005886 IDA plasma membrane
GO:0006260 IEA DNA replication
GO:0006281 IEA:TAS DNA repair
GO:0006301 IDA postreplication repair
GO:0006302 IMP double-strand break repair
GO:0006349 IEA regulation of gene expression by genetic imprinting
GO:0006357 TAS regulation of transcription from RNA polymerase II promoter
GO:0006359 TAS regulation of transcription from RNA polymerase III promoter
GO:0006633 IEA fatty acid biosynthetic process
GO:0006915 TAS apoptotic process
GO:0006974 TAS cellular response to DNA damage stimulus
GO:0006978 TAS DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0007059 IMP chromosome segregation
GO:0007098 IEA centrosome cycle
GO:0008270 IEA zinc ion binding
GO:0008274 NAS gamma-tubulin ring complex
GO:0008630 IDA intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009048 IEA dosage compensation by inactivation of X chromosome
GO:0010212 IMP response to ionizing radiation
GO:0010575 IMP positive regulation vascular endothelial growth factor production
GO:0010628 IMP positive regulation of gene expression
GO:0015631 NAS tubulin binding
GO:0016567 IEA:IDA protein ubiquitination
GO:0016874 IEA ligase activity
GO:0019899 IPI enzyme binding
GO:0030521 NAS androgen receptor signaling pathway
GO:0030529 IDA ribonucleoprotein complex
GO:0031398 IDA positive regulation of protein ubiquitination
GO:0031436 IDA BRCA1-BARD1 complex
GO:0031572 IMP G2 DNA damage checkpoint
GO:0031625 IPI ubiquitin protein ligase binding
GO:0035066 IDA positive regulation of histone acetylation
GO:0035067 IEA negative regulation of histone acetylation
GO:0042127 TAS regulation of cell proliferation
GO:0042981 TAS regulation of apoptotic process
GO:0043009 IEA chordate embryonic development
GO:0043234 IDA protein complex
GO:0043627 IDA response to estrogen
GO:0044030 IEA regulation of DNA methylation
GO:0044212 IDA transcription regulatory region DNA binding
GO:0045717 IMP negative regulation of fatty acid biosynthetic process
GO:0045739 IMP positive regulation of DNA repair
GO:0045766 IMP positive regulation of angiogenesis
GO:0045892 IDA negative regulation of transcription, DNA-templated
GO:0045893 TAS positive regulation of transcription, DNA-templated
GO:0045944 IDA positive regulation of transcription from RNA polymerase II promoter
GO:0046600 NAS negative regulation of centriole replication
GO:0046872 IEA metal ion binding
GO:0050681 NAS androgen receptor binding
GO:0051571 IDA positive regulation of histone H3-K4 methylation
GO:0051572 IEA negative regulation of histone H3-K4 methylation
GO:0051573 IDA negative regulation of histone H3-K9 methylation
GO:0051574 IEA positive regulation of histone H3-K9 methylation
GO:0051865 IDA protein autoubiquitination
GO:0070512 IDA positive regulation of histone H4-K20 methylation
GO:0070531 IDA BRCA1-A complex
GO:0071158 IDA positive regulation of cell cycle arrest
GO:0071356 IMP cellular response to tumor necrosis factor
GO:0071681 IDA cellular response to indole-3-methanol
GO:0085020 IDA protein K6-linked ubiquitination
GO:1902042 IMP negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2000378 IMP negative regulation of reactive oxygen species metabolic process
GO:2000617 IDA positive regulation of histone H3-K9 acetylation
GO:2000620 IDA positive regulation of histone H4-K16 acetylation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSMUSG00000017146 Brca1 breast cancer 1 protein_coding Mus_musculus

Loading