HsaEX6012874 @ hg19
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33411923-33442721:+
Coord C1 exon
chr2:33411923-33412147
Coord A exon
chr2:33413644-33413918
Coord C2 exon
chr2:33442619-33442721
Length
275 bp
Sequences
Splice sites
3' ss Seq
TTCCTCCCAATCTGTTGTAGTGA
3' ss Score
7.04
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
TAATTTGCCATCTTCCATGTATGAATGGTGGCCAGTGCAGTTCAAGGGACAAATGTCAGTGCCCTCCAAATTTCACAGGAAAACTTTGTCAGATCCCAGTCCATGGTGCCAGCGTGCCTAAACTTTATCAGCATTCCCAGCAGCCAGGCAAGGCGTTGGGGACGCATGTCATCCATTCAACACATACCTTGCCTCTGACCGTGACTAGCCAGCAAGGAGTCAAAG
Seq A exon
TGAAATTTCCTCCTAACATAGTCAATATCCATGTGAAACATCCTCCTGAAGCTTCCGTCCAGATACATCAGGTTTCAAGAATTGATGGCCCAACAGGCCAGAAGACAAAAGAAGCTCAACCAGGCCAATCCCAAGTCTCGTACCAAGGGCTTCCTGTCCAGAAGACCCAGACCATACATTCCACATACTCCCACCAGCAGGTCATTCCTCACGTCTACCCCGTGGCTGCTAAGACACAGCTTGGCCGGTGCTTCCAGGAAACCATTGGGTCACAG
Seq C2 exon
TGTGGCAAAGCGCTCCCTGGCCTTTCAAAGCAAGAGGACTGCTGTGGAACTGTGGGTACCTCCTGGGGCTTTAACAAATGCCAGAAATGCCCCAAGAAACCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'13-18,'13-17,15-18=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.165 A=0.370 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=35.5)
A:
PF0068312=TB=PU(2.3=1.1)
C2:
PF0068312=TB=FE(77.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTATGAATGGTGGCCAGTGCA
R:
GTTTCTTGGGGCATTTCTGGC
Band lengths:
307-582
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)