Special

HsaEX0049968 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 7 [Source:HGNC Symbol;Acc:HGNC:9351]
Coordinates
chr16:90074916-90092072:-
Coord C1 exon
chr16:90091607-90092072
Coord A exon
chr16:90075351-90075474
Coord C2 exon
chr16:90074916-90075023
Length
124 bp
Sequences
Splice sites
3' ss Seq
GAATCTGTTACTTCCTCTAGGTC
3' ss Score
8.95
5' ss Seq
TAGGTAACA
5' ss Score
6.25
Exon sequences
Seq C1 exon
GATCTTGACTCACTGCAACCTCTGATTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCTGTCTAATTTTTGTACTTTTAGTATAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTCGATCTCCTCACCTCAGGTCATCCACTGCCTTGGACTCCCAAAGTGCTGGGATTACAGCTGATGGTTTTATAAAGGGGAGTTTCCCTACACAAGCTCTTTTGCCTGCTGCCATGTAAGAGATGTGACTTTGTTCCTCACCTGCCTTCTGCCATGAGTGTGAGGCCTCTCCGACCATGTGCAACTGTGAGTCAATTAAACCTCTTTTTTTATAAATTACCCAGCCTCAGATATGTCTTTATTAGCAGCGTGAGAACAGACTAATACAACCTGTATGCCAGAAAGGCTGGGAGCACCTGTGGACTCTGACAG
Seq A exon
GTCAAAGATGCCTTCAAAGACATTTCCATATACTTCACCAAGGAAGAATGGGCAGAAATGGGAGACTGGGAGAAAACTCGCTATAGGAATGTGAAAATGAACTATAATGCACTGATTACTGTAG
Seq C2 exon
GTCTCAGAGCCACTCGACCAGCTTTCATGTGTCACCGAAGGCAGGCCATCAAACTCCAGGTGGATGACACAGAAGATTCCGATGAAGAATGGACACCTAGGCAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126856_MULTIEX2-2/2=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.000 C2=0.687
Domain overlap (PFAM):

C1:
NA
A:
PF0135222=KRAB=WD(100=92.9),PF0230512=Phage_F=PU(41.6=88.1)
C2:
PF0135222=KRAB=PD(0.1=0.0),PF0230512=Phage_F=FE(40.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCCTGCTGCCATGTAAGAG
R:
TCGGTGACACATGAAAGCTGG
Band lengths:
249-373
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development