Special

HsaEX6019605 @ hg38

Exon Skipping

Gene
Description
sushi, nidogen and EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:24696]
Coordinates
chr2:241062791-241064125:+
Coord C1 exon
chr2:241062791-241062904
Coord A exon
chr2:241063587-241063700
Coord C2 exon
chr2:241064012-241064125
Length
114 bp
Sequences
Splice sites
3' ss Seq
GACACCCCTTCTCTGTGCAGAGA
3' ss Score
9.04
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
AAATCGATGAGTGCCGGTCTCAGCCGTGCCTGCATGGGGGCTCTTGTCAGGACCGCGTTGCTGGGTACCTGTGCCTCTGCAGCACAGGCTATGAGGGCGCCCACTGTGAGCTGG
Seq A exon
AGAGGGATGAGTGCCGAGCTCACCCGTGCAGAAATGGAGGGTCCTGCAGGAACCTCCCAGGGGCCTATGTCTGCCGGTGCCCTGCAGGCTTCGTTGGAGTCCACTGTGAGACAG
Seq C2 exon
AGGTGGACGCCTGCGACTCCAGCCCCTGCCAGCATGGAGGCCGGTGTGAGAGCGGCGGCGGGGCCTACCTGTGCGTCTGCCCAGAGAGCTTCTTCGGCTACCACTGCGAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804-'52-59,'52-56,54-59=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:
PF0000822=EGF=WD(100=79.5)
A:
PF0000822=EGF=WD(100=79.5)
C2:
PF0000822=EGF=WD(100=79.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATCGATGAGTGCCGGTCTC
R:
GTCTCGCAGTGGTAGCCGAA
Band lengths:
226-340
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains