HsaEX6012869 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33273656-33275923:+
Coord C1 exon
chr2:33273656-33273781
Coord A exon
chr2:33274965-33275090
Coord C2 exon
chr2:33275801-33275923
Length
126 bp
Sequences
Splice sites
3' ss Seq
ATATGTATTTTTGTTAACAGATA
3' ss Score
8.21
5' ss Seq
TAGGTAATG
5' ss Score
7.57
Exon sequences
Seq C1 exon
AAATCAATGAATGTACTGTGAACCCTGATATCTGTGGAGCAGGACACTGCATTAACCTACCAGTGAGATATACCTGTATATGCTACGAGGGCTACAGGTTCAGTGAACAACAGAGGAAATGTGTGG
Seq A exon
ATATTGATGAGTGTACTCAGGTCCAACACCTCTGCTCCCAGGGCCGCTGTGAAAACACCGAGGGAAGTTTCTTGTGCATTTGCCCAGCAGGATTTATGGCCAGTGAGGAGGGTACTAACTGCATAG
Seq C2 exon
ATGTTGACGAATGCCTGAGGCCGGACGTCTGTGGGGAGGGGCACTGTGTCAATACTGTGGGGGCCTTCCGGTGTGAATACTGTGACAGCGGGTACCGCATGACTCAGAGAGGCCGTTGTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'53-54,'53-53,54-54
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAATGAATGTACTGTGAACCCTGA
R:
ACAACGGCCTCTCTGAGTCAT
Band lengths:
242-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains