HsaINT0097529 @ hg19
Intron Retention
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33622200-33624575:+
Coord C1 exon
chr2:33622200-33622349
Coord A exon
chr2:33622350-33623430
Coord C2 exon
chr2:33623431-33624575
Length
1081 bp
Sequences
Splice sites
5' ss Seq
TCGGTAAGA
5' ss Score
10.53
3' ss Seq
CATGGCTTGACTTATTGCAGATG
3' ss Score
7.7
Exon sequences
Seq C1 exon
GTTTTCTAAATAGCTTTGAGGAGTTACAGGCTGAGGAATGCGGCATCCTCAATGGATGTGAAAATGGTCGCTGTGTGAGGGTCCAGGAAGGTTACACCTGCGATTGCTTTGATGGGTATCACTTGGATACGGCCAAGATGACCTGTGTCG
Seq A exon
GTAAGAATGACGTGTGTTTTATGGGACATTAATTTTTTCCTGACACCCCGTATCTCAGTCAGTAGAGAACATTTAAGATAGATTTGCTGAGTTTCAGTTTGAGAAGATGAGAAAAGTTCTGGAGATGTACATTAAGTACAGTATGAATATACTTAATGCCACTGGACTATATACTTAAAAATGGTTAAAATGGTAAATATGTTCTGTGTATTTTACCACAATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTACTCTTGTCGCCCAGGCTGGAGTGCAGTGGGGTGATCTTGACTCACTGCAACTTCTGCCTCCCAGGTTCAAGCAATGCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTTCTCCATCTTGAAGCAGTCCTTTTGCCCACTTTGCTTTTGTTAGTTTTAATCCATGGTGTGTCTGTAAAATAGGTAACCTAGCTTCTTAACAGATGTTTCAAGTGAGTGAGAGCCTAAATGGGTCTCATGTAGAAGGAGGTCTGTGAATGTTATGGAAGGCTTTAGACAGGCTGTATGGAGAGGCCTCTGCGTAGGTATCTGGTTCCTCTTGACAAATCTAGCAGTTCCTCCATACCTATGGGAAGGAATTTGGAAGTAATATAGTTCCTCCAACTTCCTTGAGGTTCTACTAGAAAATGTCAAGCTCACAAAATGCTCATGTTTTGCTAGATAACAGTGAAAGAAGTTCTAGAACCTCCCTGATAATCTGCCTCTTTAAGATCTCAAAAAAGTCATCTTCGTCTTGTCTGTGACTGAAGCAATGACGAGAAAGCTTCCTTGGGGTGGTCGGGGGAAGGGCCTCAGGTAAGCCTCAGGTTATGTGTCCTCACAGAATAATATCCAAGATTGTTTACCTGCATGGCTTGACTTATTGCAG
Seq C2 exon
ATGTAAATGAATGCGATGAGTTGAACAACCGGATGTCTCTCTGCAAGAATGCCAAGTGCATTAACACCGATGGTTCCTACAAGTGTTTGTGTCTGCCAGGCTACGTGCCTTCTGACAAGCCAAACTACTGCACTCCGTTGAATACCGCCTTGAATTTAGAGAAAGACAGTGACCTGGAGTGAAACAGAATCTACATAACCTAAGCCCATATACTCTGCACTGTGTAAAGGAAAAGGGAGAAATGTATTATACTTGAGACATTGCACCTACCCCGGAAGGCTGGAAATACAGAAACAGCATGGAATTGCAAGTCCTCTGAAGACAATGAGAGGATTTAGGATGAGCCCGATAGGTGTGGCAGACCAAATGGACATTTCTCTAAAAAACCAGTATATATAGTCTGTTCATATGTAAAATTCAATGGAAGAGAGGTGGAACAGTGCTGTTATTTTAAACAGAAGGTTGTATTATTATGTTGTTTTGTTTTTTTACTATTGCTTGATTAAATTTGGCATTTAAATAGTGGTGGAAATATTTTATATAATTTTCATTTTTTGGTTGTGCAGTTCCTTGGCTACTGTTTTTCTTTTACTTCAGTTTTTTAAAAATCTCAAATGAAAAAGTCTTCGATACAATATTGTTAAGCTGTATTATAAGTATTGTTACACAGGGTTATGCAATTCCCGGCCTGGAGCATTTTTGAAATTCAAATTGTCTGTCCTGTGGAGCAGGCAGTGATTTTGTTCCAAAACTTTGTATACACATTTGGAGAAAAGTACTTTATATTTTCAGTGTTTTGTCTGATTTTAATGTCCGTTCTTAGCCAAGCTGCTAGCAGGTGTTAATTGGATCCCTTTCCTTCACTGAAATGGAAGAGTTTATAAGCTTACGTTAGTATTGTAATATGTAAAGTAAGCCCAACAAAAATTTTTAAAAATTTGATGATCCCCAATATATCTACCATTGTATGTTAAATAAATCACCATTTTTGTAGAAAAAATTCTACCTGAGAGTAATTGTCAATGAGTACATGTGTATAAGTTGTATCCCACTCTCCCCACTTTTATCTTTTCCAGTGGTCTTCTGTTAATGTAGTGTCTTTTACAAGTTAATCATTAAATTTGTTAGATCTTGTTATGGGCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-LTBP1:NM_206943:33
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=60.8),PF062476=Plasmod_Pvs28=PU(39.5=66.7),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF062476=Plasmod_Pvs28=PD(59.3=83.6),PF0764510=EGF_CA=WD(100=72.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCTGCGATTGCTTTGATGG
R:
CTGTATTTCCAGCCTTCCGGG
Band lengths:
347-1428
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
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)