Special

HsaEX0049951 @ hg19

Exon Skipping

Gene
Description
PR domain containing 5 [Source:HGNC Symbol;Acc:9349]
Coordinates
chr4:121675708-121698436:-
Coord C1 exon
chr4:121698343-121698436
Coord A exon
chr4:121677171-121677297
Coord C2 exon
chr4:121675708-121675793
Length
127 bp
Sequences
Splice sites
3' ss Seq
ATAAGATGATCTTTTCCTAGATG
3' ss Score
4.89
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ACACATACAGGAGAAAAGGAGAAAATCTGTCCATATTGTGGCCAGAAATTTGCCAGCAGTGGTACACTCAGAGTTCATATCCGGAGCCACACAG
Seq A exon
ATGTTGCCAAGCCTTTGTCCTACTGACTTGGAAAAGCCACACCTTCCCAGAGTCACGATGATCCTAAGGTCAATAATTCTAGGTCAGCTTACCTAGTGCAAAGGTTGATTTTGTCTCAGAGAAGTTG
Seq C2 exon
GTGAGCGTCCCTATCAATGTCCTTACTGTGAAAAAGGATTCAGTAAAAATGATGGACTGAAGATGCACATTCGTACTCACACCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738-'25-27,'25-26,28-27
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.056 A=0.000 C2=0.172
Domain overlap (PFAM):

C1:
PF134651=zf-H2C2_2=PD(69.2=56.2),PF102764=zf-CHCC=PD(89.5=53.1),PF134651=zf-H2C2_2=PU(38.5=31.2)
A:
NO
C2:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
ACACATACAGGAGAAAAGGAGAA
R:
TGGTGTGAGTACGAATGTGCA
Band lengths:
178-305
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