Special

HsaEX6086001 @ hg19

Exon Skipping

Gene
Description
PR domain containing 5 [Source:HGNC Symbol;Acc:9349]
Coordinates
chr4:121720816-121737729:-
Coord C1 exon
chr4:121737608-121737729
Coord A exon
chr4:121732525-121732604
Coord C2 exon
chr4:121720816-121720900
Length
80 bp
Sequences
Splice sites
3' ss Seq
GTATTTTATTTCTATTTTAGGAG
3' ss Score
10.3
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
Exon sequences
Seq C1 exon
TTTTGAGCAGCACCAGGAGACTTGCCGGGGGGATGCCAGGTTTGTGTGCAAGGCTGACAGCTGTGGAAAGAGGCTGAAGAGCAAGGATGCCCTGAAAAGACACCAGGAAAATGTCCACACTG
Seq A exon
GAGATCCTAAGAAAAAGCTTATATGTTCAGTGTGCAATAAAAAGTGTTCTTCAGCATCAAGCCTACAGGAACATAGAAAG
Seq C2 exon
ATTCATGAGATATTTGATTGTCAAGAATGTATGAAGAAATTTATTTCAGCTAATCAGCTAAAACGTCATATGATCACCCACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738-'14-18,'14-17,17-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.119 A=0.000 C2=0.034
Domain overlap (PFAM):

C1:
PF047079=PRELI=PD(11.6=26.8),PF128742=zf-met=PD(28.6=14.6),PF0009621=zf-C2H2=WD(100=63.4)
A:
PF128742=zf-met=PU(87.0=74.1),PF144711=DUF4428=PU(38.0=70.4)
C2:
PF128742=zf-met=PD(4.3=3.4),PF144711=DUF4428=FE(56.0=100),PF134651=zf-H2C2_2=PU(38.5=34.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGCCAGGTTTGTGTGCAAG
R:
TGAGTGGGTGATCATATGACGT
Band lengths:
175-255
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains