HsaEX0064710 @ hg38
Exon Skipping
Gene
ENSG00000106799 | TGFBR1
Description
transforming growth factor beta receptor 1 [Source:HGNC Symbol;Acc:HGNC:11772]
Coordinates
chr9:99128855-99138089:+
Coord C1 exon
chr9:99128855-99129100
Coord A exon
chr9:99132509-99132739
Coord C2 exon
chr9:99137859-99138089
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_MULTIEX1-1/3=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=0.062 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)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
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