HsaINT0166370 @ hg19
Intron Retention
Gene
ENSG00000106799 | TGFBR1
Description
transforming growth factor, beta receptor 1 [Source:HGNC Symbol;Acc:11772]
Coordinates
chr9:101891137-101895021:+
Coord C1 exon
chr9:101891137-101891382
Coord A exon
chr9:101891383-101894790
Coord C2 exon
chr9:101894791-101895021
Length
3408 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
CACTCGAGGCCCTTTTTCAGTAA
3' ss Score
0.49
Exon sequences
Seq C1 exon
CGTTACAGTGTTTCTGCCACCTCTGTACAAAAGACAATTTTACTTGTGTGACAGATGGGCTCTGCTTTGTCTCTGTCACAGAGACCACAGACAAAGTTATACACAACAGCATGTGTATAGCTGAAATTGACTTAATTCCTCGAGATAGGCCGTTTGTATGTGCACCCTCTTCAAAAACTGGGTCTGTGACTACAACATATTGCTGCAATCAGGACCATTGCAATAAAATAGAACTTCCAACTACTG
Seq A exon
GTAAGTTGTATAAAATTTTTTTCCTAGATACTACAAGAAAAACTCTTCATACTCTGTGATTTTAGAACTGGAAGGGATCATAAAAATTGTCTAATCCAGCTCATTCCGTTTAGAGGCAAGAAGTGACTTGTCCATTGTTACAGACTTATAAGAGTAACCAAGATCCTGCCTCCTGGGTATGTGTTGTTTAAGAAGGTGGTTCCAGGGTGGACTTCCTCTGAGGTCTGTTATACCTAAAAGGATAGATAAAAGCAAACTCTGACAAAGCCCACAACAACATCTTCAGATTGTCTCTACTTTGTTCTCAGAGTGAATTTCTTCTTCCTTGTATAATGCTCCTATCTTTTAAAGCAATCACAGTCTTTTAATGAGTGGGGATTCAGAGCAGCACTTAACAGTCTAGATGTTTTCATTTTGTAATTTCAGCTTGTTTTATGATCTTTTTGCGTAAATTAATTATACATGATTTCTAGATTTTTGGTCCTTCACCTGTAGTTTACATTTAAAATTTCCTGGGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCTGAGGTGGGCAGATCACTTGAGGCCAGAAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTATCTCTACTAAAATAACAAAAATTAGCTGGGCATGGTGGCACATGCTTGTAATCCCACCTACTTGGGTGGCTGAGGCACAACAATCTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCTCTGTCTAAAAAAAAAAGATAATAAATAAATAAATAAAATTTCCTGGCAGAACCAGCAGTTTGAAGACTTCATAAACTTTTTAATTTTAAGATTCCGGTTTAATATGGAAGTCTGAGCACATGTATTTAACTCTTACCTCTTTCCCCAGATCCCAAAGGAATATAAAAATGAGGGCAACCTGTATTAATGCTAGTGGGATTAATGGTAGAATGCCACCCACATGCCAGCACTTGTGAGGAACTTCTGCAATTTACAGTACAGATGACACCAGACTAGTAAAGAATTGACTAGCCATATAAGAAAGGTTAGTCATCGAAAAGTCCAGCCAATAACTTAGACAAAGGATTTGGGGGGTGAGGTTAGGGTATGGGGGCAAACTCTCAGTTCCCTTTTAGGAAGCACCTGGCTTCAGTGCTCAGAGGAGCAGACACAGTTGCTCACTCTCCACTCAAAGTTGGTCCAGGCCTTGTGCTAATTAAAGGAGGAAGCACTGCTGTAGCGCAGAAGGAAAAGGCCAGTCCTCCACCTGTTCAGCATGATAATGCAGCTCCCCTGTGGTAAGGGTTGGTCGGACTACAATATCTTTGTGACTTTGATGAAAGCATCTGCAGTTATAATGTGGCAAAGAAAAGGATAATTCCAGAATTTCCCATTTCCATCATTTGAGCTTGAAATATCTGAATAGATATTTACAAAACCTTGTGAAGAAGTCACCTTATTTCTCATGTTTCTAATGAACATATATAAACTTCTCATTTCCAGCTCTAGGATAAGCAAACAGCAAAAAATTACCAATGAAAAGTTAGGAGTTCAAAAGAAGTAGTCTGAACTAGATAGATTAGATGTCATCCTGTGAAATAGGTTTACCACATGATAGGGAAGAACTTTCAAACAGTACAGGGTCTATTTTCAGTTATTCACTATGAAATGAGAACATTTCACAGTTGTTAAAGGTTGCTTTCAGAAGAAAAGCCCAACTGATGAATGTTTTTAAAAATGCACTATTGAGAGCGAACAACAGACTGGATGCCATAATTTTATAGTCAAGTTTGGGACAAGTTTTAAGAAACTGTGTTACAATTCAGAGAAAAGACAGTTGGTGAGCATATTAAGAGATATAGGGAACAGATTTAGATGATCCAATATGCTTATTATCAGAATTCCAGAAAAAGGCATGAAATCATAAAGAAGACAGAATACCAGGCAAAATTAATGAAAAAATATTAATCCAAACACATATAATAAAAAGTATCAATTTCAAGAATAAAAGAATTATATAAGCATTTAACACACATAAACATTGGTTACCTGTAAAAGGTGAAAAAAAAAAACAGGTTCAGATTTTCTGCTTAAATATCAAAGGGCAAATGGAACATTTTTACGATCACCTAAAATTCTTGAAATAGGCCAAGATTTTTCATATACAAAGGCAACAGCCTTCTTGCCACAACTAAGTTCAGTGTACAAGGGTGCATGGACTCTTCCTGAAAGAAATTACTAGAAATAGGATTCTGTATGATAAGAGATTAATCTACTGAAGATCTTAAGAATGGGAAAGATGTGATATGAAAGAAATGGTGGTAAGCAGTAAACCAGTAAGACTCAGGATGAATGTCAAAATAATTGTAATTTTCTGAAACAACCAGAAAATCTTAATTATTAATAGAAGTTACAAGAAAATGATCTGGACTTAAAAGTCCAGGAGGTTAAGATAGTATAAAAAGTATATATATGCAAACTCTGTTAAAAAAAAAAAGTAAAAGATATGTTCTGCCTTTAAAAAATTGGTGGACCTATTGGCCGGGCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTAGGTGGATCACTTGAGGTTAGGGGTTCGAGACCAGCCTGAGCAACATGGTGAAACCCCGTCTCTATTAAGATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAACATCATACCACTGTACTCCAGCCTGGGCAACAAGAGTGAAAATCCATCTCAAAAAAAAAAAAAATTGGTGGAGAGATATATACTGAAATGTGAGTTGTTTAGAAGTGATGAAGATGTATGTGGTTTTTTTTTTCGCTTGTTTTGATATTTTGTTGTTTTTTTTGTTGTTGTTTTTCTTGCTATGAGCATGTACTGGCCTTGGAACAAGAAGACAAGCCAAACATTAAAAAAAATATGATTTTTAAGGAGATGTTAATAGGTATTGTTACAGGTTATTGGTATTAGTGACCTGATGTGATAAGTGGGGAAGGTCCTATGATATTGGCGGCAGTTGGCCTTGTAATGATGGCTGAAGAATACAGGAGTAAGTGGGTGCTGACAGAGCTGGTGTGCATAAAAGGAGGCCTAGTGGGAGAAGACTGATTCACTTGTTCTGGGTTTGAGCCCTGTAAACTGCTGTAATGAGGCTCTTTGGCTAAGTGGTGGCAGTGGCCAGCTGCAGGAATTGTGTAGGATTGGGAAAATGGGGGTTGCCACCTACAGTGTTTTTGTCGTTGTTGATGTTTATTTCACTCGAGGCCCTTTTTCAG
Seq C2 exon
TAAAGTCATCACCTGGCCTTGGTCCTGTGGAACTGGCAGCTGTCATTGCTGGACCAGTGTGCTTCGTCTGCATCTCACTCATGTTGATGGTCTATATCTGCCACAACCGCACTGTCATTCACCATCGAGTGCCAAATGAAGAGGACCCTTCATTAGATCGCCCTTTTATTTCAGAGGGTACTACGTTGAAAGACTTAATTTATGATATGACAACGTCAGGTTCTGGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106799-TGFBR1:NM_004612:2
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.051
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=WD(100=97.6),PF085157=TGF_beta_GS=PU(7.7=1.2)
A:
NA
C2:
PF085157=TGF_beta_GS=PU(58.6=21.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)