Special

HsaEX0032970 @ hg38

Exon Skipping

Gene
NA
Description
NA
Coordinates
chr1:210775348-210804166:-
Coord C1 exon
chr1:210803967-210804166
Coord A exon
chr1:210797508-210797760
Coord C2 exon
chr1:210775348-210775544
Length
253 bp
Sequences
Splice sites
3' ss Seq
TTTTTTCTGTACCTGGCTAGGTC
3' ss Score
9.18
5' ss Seq
TAGGTAGGT
5' ss Score
7.92
Exon sequences
Seq C1 exon
CACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGTATGCCAACACCAACAGATACCATGAGATGCTCAACAGTGTTCGGGACTTCCTGAAGCTCTACCAGGTGCCAAAAGGATTGAGTGAGCGAGTAATGGATTATATTGTGTCCACTTGGTCCATGTCCAGAGGCATTGACACAGAGAAG
Seq A exon
GTCCTGCAGATCTGCCCCAAGGACATGAGAGCCGACATCTGCGTGCACCTGAACCGCAAGGTGTTCAAGGAGCACCCGGCCTTCCGGCTGGCCAGTGATGGCTGCCTCCGGGCACTGGCCATGGAGTTCCAGACGGTGCACTGTGCCCCAGGGGACCTCATCTACCATGCAGGAGAGAGCGTTGACAGCCTCTGCTTTGTGGTTTCTGGCTCCCTGGAGGTGATCCAAGATGATGAGGTGGTGGCCATTCTAG
Seq C2 exon
GAAAAGGAGACGTGTTTGGAGATGTGTTCTGGAAGGAAGCCACCCTTGCCCAGTCCTGTGCCAATGTTAGGGCCTTGACCTACTGTGATCTGCATGTGATCAAGCGGGATGCCCTGCAGAAAGTGCTGGAATTCTACACGGCCTTCTCCCATTCCTTCTCCCGGAACCTGATTCTGACGTACAACTTGAGGAAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473-'18-17,'18-16,20-17
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

NA

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

C1:
PF0052026=Ion_trans=PD(4.0=14.9)
A:
PF0002724=cNMP_binding=PU(45.5=47.1)
C2:
PF134261=PAS_9=PD(27.6=43.9),PF0002724=cNMP_binding=PD(66.2=71.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCCACCATCTTCGGGAATG
R:
CCCGCTTGATCACATGCAGAT
Band lengths:
299-552
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