HsaEX6012861 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33389184-33399359:+
Coord C1 exon
chr2:33389184-33389306
Coord A exon
chr2:33397133-33397282
Coord C2 exon
chr2:33398364-33399359
Length
150 bp
Sequences
Splice sites
3' ss Seq
TTCTGCCCTTTCCTTTCCAGGTT
3' ss Score
13.39
5' ss Seq
TCGGTAAGA
5' ss Score
10.53
Exon sequences
Seq C1 exon
ATGACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCCGGCAGCCATATGGACGGGACGCCTTGGTTGACTTCAGTGAACAGTATACTCCAGAAGCCGATCCCTACTTCATCCAAGACC
Seq A exon
GTTTTCTAAATAGCTTTGAGGAGTTACAGGCTGAGGAATGCGGCATCCTCAATGGATGTGAAAATGGTCGCTGTGTGAGGGTCCAGGAAGGTTACACCTGCGATTGCTTTGATGGGTATCACTTGGATACGGCCAAGATGACCTGTGTCG
Seq C2 exon
ATGTAAATGAATGCGATGAGTTGAACAACCGGATGTCTCTCTGCAAGAATGCCAAGTGCATTAACACCGATGGTTCCTACAAGTGTTTGTGTCTGCCAGGCTACGTGCCTTCTGACAAGCCAAACTACTGCACTCCGTTGAATACCGCCTTGAATTTAGAGAAAGACAGTGACCTGGAGTGAAACAGAATCTACATAACCTAAGCCCATATACTCTGCACTGTGTAAAGGAAAAGGGAGAAATGTATTATACTTGAGACATTGCACCTACCCCGGAAGGCTGGAAATACAGAAACAGCATGGAATTGCAAGTCCTCTGAAGACAATGAGAGGATTTAGGATGAGCCCGATAGGTGTGGCAGACCAAATGGACATTTCTCTAAAAAACCAGTATATATAGTCTGTTCATATGTAAAATTCAATGGAAGAGAGGTGGAACAGTGCTGTTATTTTAAACAGAAGGTTGTATTATTATGTTGTTTTGTTTTTTTACTATTGCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'85-95,'85-94,89-95
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PD(11.6=11.9)
A:
PF0000822=EGF=WD(100=60.8),PF062476=Plasmod_Pvs28=PU(39.5=66.7),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF062476=Plasmod_Pvs28=PD(59.3=83.6),PF0764510=EGF_CA=WD(100=72.1)
Main Skipping Isoform:
ENST00000404816fB3999
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGTAACATCCCCGTGACG
R:
CGGAGTGCAGTAGTTTGGCTT
Band lengths:
246-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains