Special

HsaEX0036916 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:6715]
Coordinates
chr14:74970629-74972894:-
Coord C1 exon
chr14:74972751-74972894
Coord A exon
chr14:74971686-74971877
Coord C2 exon
chr14:74970629-74970757
Length
192 bp
Sequences
Splice sites
3' ss Seq
TGAGCATCTGTCACGCACAGGTC
3' ss Score
5.56
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
ATGTGAACGAGTGTGAGCTTATGCTGGCGGTATGTGGGGCCGCGCTCTGTGAGAACGTGGAGGGCTCCTTCCTGTGCCTCTGTGCCAGTGACCTGGAGGAGTACGATGCCCAGGAGGGGCACTGCCGCCCACGGGGGGCTGGAG
Seq A exon
GTCAGAGTATGTCTGAGGCCCCAACGGGGGACCATGCCCCGGCCCCCACCCGCATGGACTGCTACTCCGGGCAGAAGGGCCATGCGCCCTGCTCCAGTGTCCTGGGCCGGAACACCACACAGGCTGAATGCTGCTGCACCCAGGGCGCTAGCTGGGGAGATGCCTGTGACCTCTGCCCGTCTGAGGACTCAG
Seq C2 exon
ATGCGGATGAGTGTGTGATATTCGGGCCTGGTCTCTGCCCGAACGGCCGGTGCCTCAACACCGTGCCTGGTTATGTCTGCCTGTGCAATCCCGGCTTCCACTACGATGCTTCCCACAAGAAGTGTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681_MULTIEX1-21/27=20-23
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.061 A=0.123 C2=0.000
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=85.7)
A:
PF0068312=TB=PU(85.7=55.4)
C2:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTATGCTGGCGGTATGTGGG
R:
TGTGGGAAGCATCGTAGTGGA
Band lengths:
244-436
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development