Special

HsaEX0064710 @ hg19

Exon Skipping

Gene
ENSG00000106799 | TGFBR1
Description
transforming growth factor, beta receptor 1 [Source:HGNC Symbol;Acc:11772]
Coordinates
chr9:101891137-101900371:+
Coord C1 exon
chr9:101891137-101891382
Coord A exon
chr9:101894791-101895021
Coord C2 exon
chr9:101900141-101900371
Length
231 bp
Sequences
Splice sites
3' ss Seq
CACTCGAGGCCCTTTTTCAGTAA
3' ss Score
0.49
5' ss Seq
CAGGTAACA
5' ss Score
8.88
Exon sequences
Seq C1 exon
CGTTACAGTGTTTCTGCCACCTCTGTACAAAAGACAATTTTACTTGTGTGACAGATGGGCTCTGCTTTGTCTCTGTCACAGAGACCACAGACAAAGTTATACACAACAGCATGTGTATAGCTGAAATTGACTTAATTCCTCGAGATAGGCCGTTTGTATGTGCACCCTCTTCAAAAACTGGGTCTGTGACTACAACATATTGCTGCAATCAGGACCATTGCAATAAAATAGAACTTCCAACTACTG
Seq A exon
TAAAGTCATCACCTGGCCTTGGTCCTGTGGAACTGGCAGCTGTCATTGCTGGACCAGTGTGCTTCGTCTGCATCTCACTCATGTTGATGGTCTATATCTGCCACAACCGCACTGTCATTCACCATCGAGTGCCAAATGAAGAGGACCCTTCATTAGATCGCCCTTTTATTTCAGAGGGTACTACGTTGAAAGACTTAATTTATGATATGACAACGTCAGGTTCTGGCTCAG
Seq C2 exon
GTTTACCATTGCTTGTTCAGAGAACAATTGCGAGAACTATTGTGTTACAAGAAAGCATTGGCAAAGGTCGATTTGGAGAAGTTTGGAGAGGAAAGTGGCGGGGAGAAGAAGTTGCTGTTAAGATATTCTCCTCTAGAGAAGAACGTTCGTGGTTCCGTGAGGCAGAGATTTATCAAACTGTAATGTTACGTCATGAAAACATCCTGGGATTTATAGCAGCAGACAATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106799_MULTIEX1-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.051 C2=0.000
Domain overlap (PFAM):

C1:
PF0106418=Activin_recp=WD(100=97.6),PF085157=TGF_beta_GS=PU(7.7=1.2)
A:
PF085157=TGF_beta_GS=PU(58.6=21.8)
C2:
PF085157=TGF_beta_GS=PD(84.6=14.1),PF0006920=Pkinase=PU(22.2=82.1)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCTCTGCTTTGTCTCTGTC
R:
CTTCTTCTCCCCGCCACTTTC
Band lengths:
301-532
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development