Special

HsaEX6068719 @ hg38

Exon Skipping

Gene
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103683205-103688215:+
Coord C1 exon
chr12:103683205-103683300
Coord A exon
chr12:103684989-103685084
Coord C2 exon
chr12:103688168-103688215
Length
96 bp
Sequences
Splice sites
3' ss Seq
TTTCATCTTGGTTTTCTCAGGCA
3' ss Score
8.25
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
AATGAGTGTGAGTGCAAGAAAGGATTTCGAGGAAATGGGATTGACTGTGAACCAATAACTTCATGCTTGGAACAAACCGGGAAATGTCATCCATTG
Seq A exon
GCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTG
Seq C2 exon
GAATTGTCATTTCTCTCCGAAGCAGCTATATTTAACCGATGGATAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'29-39,'29-35,30-39=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF129472=EGF_3=PD(42.9=46.9),PF129472=EGF_3=PU(27.0=31.2)
A:
PF129472=EGF_3=PD(67.6=78.1)
C2:
PF0246917=Fasciclin=PU(8.0=62.5)


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:
AATGAGTGTGAGTGCAAGAAAGGA
R:
TTTATCCATCGGTTAAATATAGCTGC
Band lengths:
143-239
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains