Special

HsaEX6012861 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33614251-33624228:+
Coord C1 exon
chr2:33614251-33614373
Coord A exon
chr2:33622200-33622349
Coord C2 exon
chr2:33623431-33624228
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-'53-58,'53-57,55-58=AN
Average complexity
A_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 Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
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