HsaEX0036889 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33315144-33347510:+
Coord C1 exon
chr2:33315144-33315269
Coord A exon
chr2:33342838-33342963
Coord C2 exon
chr2:33347367-33347510
Length
126 bp
Sequences
Splice sites
3' ss Seq
GTTCCATGTCTTTTTTGCAGATA
3' ss Score
10.53
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
ATATTAATGAATGTGAACATCCAGGGCTCTGTGGTCCGCAAGGGGAGTGCCTAAACACAGAGGGTTCTTTCCATTGTGTCTGCCAGCAGGGTTTCTCAATCTCTGCAGATGGCCGTACGTGTGAAG
Seq A exon
ATATTGATGAATGTGTAAACAACACTGTTTGTGACAGTCACGGGTTTTGTGACAATACAGCTGGCTCCTTCCGCTGCCTCTGTTATCAGGGCTTTCAAGCCCCACAGGATGGGCAAGGGTGTGTGG
Seq C2 exon
ATGTGAATGAATGTGAACTGCTCAGTGGGGTGTGTGGTGAAGCCTTCTGTGAAAACGTGGAAGGGTCCTTCCTGTGCGTGTGTGCTGATGAAAACCAAGAGTACAGCCCCATGACTGGGCAGTGCCGCTCCCGGACCTCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'65-78,'65-76,70-78
Average complexity
S
Mappability confidence:
92%=88=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:
PF062476=Plasmod_Pvs28=PD(37.3=51.2),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=85.7)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAACATCCAGGGCTCTGTG
R:
CTGTGGAGGTCCGGGAGC
Band lengths:
258-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development