Special

HsaEX6012876 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33245976-33360027:+
Coord C1 exon
chr2:33245976-33246273
Coord A exon
chr2:33335649-33335818
Coord C2 exon
chr2:33359860-33360027
Length
170 bp
Sequences
Splice sites
3' ss Seq
TTTATTTTGTTTCTTCCCAGAGT
3' ss Score
9.53
5' ss Seq
AGCGTGAGT
5' ss Score
8.2
Exon sequences
Seq C1 exon
CTAGCTGTGTTCCGCCATGTCAGAATGGAGGGATGTGTCTCCGGCCACAACTCTGTGTGTGTAAACCAGGGACCAAGGGCAAAGCCTGTGAAACAATAGCTGCCCAGGACACCTCGTCACCAGTCTTTGGAGGGCAGAGTCCTGGGGCTGCTTCCTCGTGGGGCCCTCCTGAGCAAGCAGCAAAGCATACTTCATCTAAGAAGGCAGACACTCTACCAAGAGTCAGCCCTGTGGCCCAGATGACCTTAACCCTCAAGCCGAAGCCTTCAGTGGGACTCCCCCAGCAGATACATTCTCA
Seq A exon
AGTGACTCCTCTTTCTTCCCAGAGTGTGGTGATTCACCATGGCCAGACCCAGGAATACGTGCTCAAGCCCAAGTACTTTCCAGCCCAGAAGGGGATTTCAGGAGAGCAGTCCACTGAAGGTTCTTTCCCTTTAAGATATGTGCAGGATCAAGTTGCGGCACCTTTTCAGC
Seq C2 exon
TGAGTAACCACACTGGCCGCATCAAGGTGGTCTTTACTCCGAGCATCTGTAAAGTGACCTGCACCAAGGGCAGCTGTCAGAACAGCTGTGAGAAGGGGAACACCACCACTCTCATTAGTGAGAATGGTCATGCTGCCGACACCCTGACGGCCACGAACTTCCGAGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'3-11,'3-3,4-11=AN
Average complexity
A_S
Mappability confidence:
93%=100=91%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.665 A=0.256 C2=0.046
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAATAGCTGCCCAGGACAC
R:
TAAAGACCACCTTGATGCGGC
Band lengths:
243-413
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains