ChromothripsisDB: a curated database of chromothripsis
 
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  Fusion Gene
  PubMed ID: 24440784 Case ID: 24440784_1 Disease: Loeys-Dietz syndrome Genome Assembly: GRCh37/hg19
Gene Symbol 1 Chromosome1 Description 1 Gene Symbol 2 Chromosome2 Description 2
 
 
  Affected Gene
  PubMed ID: 24440784 Case ID: 24440784_1 Disease: Loeys-Dietz syndrome Genome Assembly: GRCh37/hg19
Gene Symbol Entrez Gene Chromosome Start End Description
CENPF 1063 1 214776538 214837931 centromere protein F, 350/400kDa
CHRM3 1131 1 239549865 240078750 cholinergic receptor, muscarinic 3
CLIC6 54102 21 36041688 36090525 chloride intracellular channel 6
ESRRG 2104 1 216676588 217311097 estrogen-related receptor gamma
KANK1 23189 9 470291 746105 KN motif and ankyrin repeat domains 1
KCNK2 3776 1 215179118 215410436 potassium channel, two pore domain subfamily K, member 2
KCTD3 51133 1 215740735 215795149 potassium channel tetramerization domain containing 3
PTPN14 5784 1 214522039 214725792 protein tyrosine phosphatase, non-receptor type 14
RCAN1 1827 21 35885440 35987441 regulator of calcineurin 1
RRP15 51018 1 218458629 218511325 ribosomal RNA processing 15 homolog (S. cerevisiae)
RUNX1 861 21 36160098 37376965 runt-related transcription factor 1
SMYD2 56950 1 214454445 214510474 SET and MYND domain containing 2
SPATA17 128153 1 217804666 218045038 spermatogenesis associated 17
TGFB2 7042 1 218519577 218617961 transforming growth factor, beta 2
USH2A 7399 1 215796236 216596738 Usher syndrome 2A (autosomal recessive, mild)
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© 2015 Cai Laboratory.  Last updated on 13 Mar 2018