Special

HsaEX6068736 @ hg19

Exon Skipping

Gene
Description
stabilin 2 [Source:HGNC Symbol;Acc:18629]
Coordinates
chr12:104031794-104042601:+
Coord C1 exon
chr12:104031794-104031990
Coord A exon
chr12:104033901-104034034
Coord C2 exon
chr12:104042468-104042601
Length
134 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCCTGTCTACTGAAGTCT
3' ss Score
5.43
5' ss Seq
TGAGTAAGT
5' ss Score
8.82
Exon sequences
Seq C1 exon
CCATCAATCCATGTTTACGAAAAATCTGCCACCCTCATGCTCATTGTACGTACCTGGGACCAAATCGGCACAGTTGTACATGCCAAGAAGGCTACCGTGGGGATGGCCAAGTGTGCTTGCCTGTGGACCCCTGCCAAATTAACTTTGGAAACTGCCCTACAAAGTCTACAGTGTGCAAATATGATGGGCCTGGACAG
Seq A exon
TCTCACTGCGAGTGTAAGGAGCATTACCAGAATTTCGTACCTGGAGTGGGGTGCAGTATGACTGATATATGTAAATCAGATAACCCGTGTCATAGGAATGCAAATTGCACCACCGTCGCACCAGGCCGAACTGA
Seq C2 exon
ATGCATTTGCCAGAAAGGTTACGTGGGTGATGGCTTAACGTGTTATGGAAACATTATGGAGCGACTCAGAGAATTAAATACTGAACCCAGAGGAAAATGGCAAGGAAGGCTGACCTCTTTCATCTCACTCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'7-8,'7-7,8-8=AN
Average complexity
A_C1
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=0.022
Domain overlap (PFAM):

C1:
PF129472=EGF_3=WD(100=50.0)
A:
PF129472=EGF_3=PU(58.3=46.7)
C2:
PF129472=EGF_3=PD(38.9=30.4),PF0246917=Fasciclin=PU(7.9=21.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCGGCACAGTTGTACATGCC
R:
GGTCAGCCTTCCTTGCCATTT
Band lengths:
249-383
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains