Special

HsaEX6012871 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33468729-33482578:+
Coord C1 exon
chr2:33468729-33468851
Coord A exon
chr2:33477744-33477911
Coord C2 exon
chr2:33482351-33482578
Length
168 bp
Sequences
Splice sites
3' ss Seq
GCTTTATCTCTCTGCTTCAGCTG
3' ss Score
8.76
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
ATATTAATGAATGTCAGCTACAAGGTGTATGCCCTAATGGTGAGTGTTTGAATACCATGGGCAGCTATCGATGTACCTGCAAAATAGGATTTGGGCCGGATCCTACCTTTTCAAGTTGTGTTC
Seq A exon
CTGATCCCCCTGTGATCTCGGAAGAGAAAGGGCCCTGTTACCGACTTGTCAGTTCTGGAAGACAGTGTATGCACCCTCTGTCTGTTCACCTCACCAAGCAGCTCTGCTGTTGTAGTGTGGGCAAGGCCTGGGGCCCACACTGTGAGAAATGTCCCCTTCCAGGCACAG
Seq C2 exon
CTGCTTTTAAGGAAATCTGTCCTGGTGGAATGGGTTATACGGTTTCTGGCGTTCATAGACGCAGGCCAATCCATCACCATGTAGGTAAAGGACCTGTATTTGTCAAGCCAAAGAACACTCAACCTGTTGCTAAAAGTACTCATCCTCCACCTCTCCCAGCCAAGGAAGAGCCAGTGGAGGCCCTGACCTTCTCCCGGGAACACGGGCCAGGAGTGGCGGAGCCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'18-24,'18-22,20-24=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.002 A=0.005 C2=0.775
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.2)
A:
PF0068312=TB=PU(85.7=63.2)
C2:
PF0068312=TB=PD(11.9=6.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGCAGCTATCGATGTACCT
R:
CACTGGCTCTTCCTTGGCTG
Band lengths:
242-410
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains