Special

HsaEX0062735 @ hg38

Exon Skipping

Gene
ENSG00000076944 | STXBP2
Description
syntaxin binding protein 2 [Source:HGNC Symbol;Acc:HGNC:11445]
Coordinates
chr19:7638726-7639807:+
Coord C1 exon
chr19:7638726-7638775
Coord A exon
chr19:7639019-7639100
Coord C2 exon
chr19:7639731-7639807
Length
82 bp
Sequences
Splice sites
3' ss Seq
CTGTCCATCCATCTGGACAGGTG
3' ss Score
9.02
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
AAATTCTGAGCGGAGTTATTCGGAGTGTCAAGAAGGATGGGGAGTGGAAG
Seq A exon
GTGCTTATCATGGATCACCCAAGCATGCGCATCTTGTCTTCCTGCTGCAAAATGTCAGATATCCTGGCTGAGGGCATCACCA
Seq C2 exon
TTGTTGAAGACATCAACAAACGGCGGGAACCCATTCCCAGTCTGGAGGCCATTTATTTGCTGAGCCCCACGGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076944-'2-11,'2-10,3-11=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0099518=Sec1=PU(0.2=5.9)
A:
PF0099518=Sec1=FE(87.1=100),PF0099518=Sec1=PU(1.7=7.1)
C2:
PF0099518=Sec1=FE(22.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATTCTGAGCGGAGTTATTCGGA
R:
CTTCTCCGTGGGGCTCAGC
Band lengths:
127-209
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