HsaINT1022236 @ hg38
Intron Retention
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33257443-33259610:+
Coord C1 exon
chr2:33257443-33257511
Coord A exon
chr2:33257512-33259587
Coord C2 exon
chr2:33259588-33259610
Length
2076 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
TTTTTCTTTTCTGGTTTTAGTGG
3' ss Score
9.29
Exon sequences
Seq C1 exon
CCAAGGAAGAGCCAGTGGAGGCCCTGACCTTCTCCCGGGAACACGGGCCAGGAGTGGCGGAGCCAGAAG
Seq A exon
GTGAGAGCGGTAATGGATCATGGACTCTAGACATCTATCTGTGTGTCTTTGCTTTGATTTCCCTGTTTATAACCCTCTAGAACAGAGTTTCTCAGCCTAAGCACTATTGGCATTTTAGAGTGGAGAATTATTTGATTGGGGGCTGCCCTGTGTATTGTAAAATGTTTAGCCACTGCTATAGAATAATATGTACCTAGTAGATAACAATATTCCATGCTAATTTTAGAATGCTGTCCTGATGTTTGGGGGCTGCTTTATCTTGGCGTTTATATCTGGAGAGTAATTTAGATCCTTCAGGGAATAGCCCTAATTTCATTTCTTGTCTAGAAGGCCATTTAACAACTATTTATTTCTGAAGTGGAATCCACAGACTTTCAAAAAGTTAAAGCATTAAGGTCTAATGGGCAGTCAAGGATAATGGAGGATGAAATGAAGGAAGCTAAGAGATTGTCAGTTGAAGAGATCTGGTGATCACCTAGTGTGGTTCTTCCATTTACCCTCTGAGAAACCTGAGACCTAGAGAGGGGACATGACTTGCCAGATGTCATATAGAGAACATGTAATGGGACCTGTGACCACGGAGCACCTTTTCCCAAGGAAATAGTTTAAGGCTTATACTTGAGAGGGAGTCTAGAGACAATGGACTTTGACTCTCTCTCTGGCATTCAGGCTGTGGGGTCATCCCTATCTCTTGATATAAACCCAGCAATATCTAATACTTCACATATCTTGCTTACAAAGATGTTCACCTCAGAAGGAACAAACCTTTTGGATTTGTATGGAATAGACGTATTTTCTCTAATAAAGCTCCTGTTGGCTTTTCACAGTTGATTCTGAGGTCAGAATTCAGGGGGCCATTTTTGGGTGCTGTTGAGGAGATAGAGTGCCCAGGCTAGTGTTGTGTTGGGAGTTTGCCATAGCCGCCTTCTTGGTGAGGCAGGCTTTTTTTCTGAGCTCTGAACGTTTGTGTGTTCTGGCCTATTTGATTCTATGCTTTCACTCACTGCATTTCTTCCTTGGTGAGGCAGAACAGGCAAAACCTCAGCTGGAATCAACAGTATTAATCAGTTTGCCCCTGGACACTTAGTATCATGACCAGATGTTTGCAACTGTTCATTGTTTGCACAGGCAGGAGGAAATGGGCCGTAGTTCCAGATTTTGCCTCAAGACCTTCTTCGTGGTAGGTTAGGCAGAATAGAAGGTTATTGACTTTCTCCAACCCCAAGAATATTGCAGCAATGATTTTACTTTGTCTGGTACCCTGATTGCTTTCAGGATTTAATGCTCCTGCCCAACCTGTAAACTAATGTTTTTACAGGAGACATTGATTGACTTATGAGAAAAATCCTGGTGAATGTTGATCCAGGGCTTTAGAACTAATATGAAGGACTGATTAATGAAAAGCAAGTCTTTAAAAATACAAAGGCATCACCAACACCCTCACAATAACGTTTATGATTGTGTAATGTATAATTTGTTCAGTATATTGATGCTAATCTCTAATTGGCTCTTCCTGGCTTGTGAGATTCTTTTTCGTAATTTAGTTAGCATATCTTTTTGAAAATATTCACGGGGCTTCATTAAAGATTGGAATACATCAAGAATGCAGCACATGCTGTCATGTCTCTTACTGAAATAAGTGACATTCTTTTTTAACACTTGACACCAGAAAGCATTTCAAACATTATATACCATAAGGATAAACCTTTAACCAATTAATGAAAATGTTTGTTTTCTAACATATGGAAAGTTCCACATAACTGAGATAAGGCATAAAATGTTGTACCAGAAAGTATTGCCTTCTTCTTTTAATTTTAATTCTGAAAGAGTTTGAAAGACTTGTTCACATCTTCTCCATGTGCTCCAGTAGTTGAGGAGTAACAGCACTGAGAGTTCTCTGTTAGTCATGTGTAAAATTCCCTAAAATGGCAGATGATCCTAATTCTGCATTTGCTTTAGTCTGATTCTTAATCCTTTTGCAGAGATAATGGACTTCTATTGTTTTTTAAGAATTGAAATATAATAGACTGAATTGTCTTAAATGGTACTAATACCCTTTTTCTTTTCTGGTTTTAG
Seq C2 exon
TGGCAACTGCACCCCCTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323:ENST00000404525:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.784 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PD(7.5=12.5)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Zebrafish
(danRer10)
No conservation detected
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
- Autistic and control brains