Special

HsaEX0049953 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120691915-120754638:-
Coord C1 exon
chr4:120754553-120754638
Coord A exon
chr4:120710309-120710413
Coord C2 exon
chr4:120691915-120695275
Length
105 bp
Sequences
Splice sites
3' ss Seq
TCTCTTTTTGTTGACTGCAGGAG
3' ss Score
9.2
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
GTGAGCGTCCCTATCAATGTCCTTACTGTGAAAAAGGATTCAGTAAAAATGATGGACTGAAGATGCACATTCGTACTCACACCAGG
Seq A exon
GAGAAGCCGTACAAGTGCTCAGAGTGCAGCAAGGCCTTCAGCCAGAAGCGAGGCCTGGATGAGCACAAGAGGACGCACACTGGAGAAAAGCCTTTTCAGTGTGAT
Seq C2 exon
GTTTGTGATTTGGCTTTTAGCCTGAAGAAAATGCTGATTCGACACAAGATGACTCATAATCCCAATCGTCCCCTGGCAGAATGCCAGTTTTGCCATAAGAAGTTTACAAGGAATGACTACCTCAAAGTGCACATGGACAATATCCATGGTGTAGCTGACAGCTAATAGGGGCTGTAAAGGAATTAAACTATTCAGAAGGGCTCCTAATATGAATCCCAGATTTTTATCACCTGATCAGCATAACAGAAGTAGCCAAAAGTGACTTACTGGTCTCATAGTTCTTATTTGCCTACATTTAGAGTCTGTAGATGCATATGCAACCAAAAAAAAGTCTTACTTTTAACAAGAAATGGTATAAATGGAAAAAAAATACAACTCCATAGCCTTGCAAAATGCAACTTGTGCTCTGTCTTATAAAAATGGAGAAAGGAGTCATGGCTCTCTTTCTTGGCCATCCCTCTGTAATGAAGTTTATAATATACTTCCCTAATAGGCCTTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738-'49-54,'49-51,53-54
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.164 A=0.256 C2=0.037
Domain overlap (PFAM):

C1:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)
A:
PF134651=zf-H2C2_2=PD(53.8=40.0),PF134651=zf-H2C2_2=PU(68.0=48.6)
C2:
PF134651=zf-H2C2_2=PD(24.0=10.9),PF0009621=zf-C2H2=WD(100=41.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGCGTCCCTATCAATGTCCT
R:
GCTGTCAGCTACACCATGGAT
Band lengths:
247-352
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