Special

HsaEX0073850 @ hg19

Exon Skipping

Gene
ENSG00000175322 | ZNF519
Description
zinc finger protein 519 [Source:HGNC Symbol;Acc:30574]
Coordinates
chr18:14104724-14132429:-
Coord C1 exon
chr18:14132274-14132429
Coord A exon
chr18:14124349-14124475
Coord C2 exon
chr18:14104724-14106408
Length
127 bp
Sequences
Splice sites
3' ss Seq
CTTGATATATGTGTTTCCAGGAA
3' ss Score
7.62
5' ss Seq
TGGGTGAGA
5' ss Score
6.04
Exon sequences
Seq C1 exon
CACTTCAGCCAGAGCGCGGGGTTAGGGCTTCATTGCCTTGTGTCCTCTGCTCCGGGAGACTTCGGTGATTCTGCCACTCACTCCGTCGCTCTGTGACCTGCTGGCATTGAATGATTTATAGCTAAGACTCCAGGACACCCCTGAAGCCGAGAAATG
Seq A exon
GAACTCTTAACATTCAGGGATGTGGCCATAGAATTCTCTCCAGAAGAGTGGAAATGCCTAGACCCTGCCCAACAGAATTTATATAGAGATGTGATGTTGGAGAACTACAGAAACCTCGTCTCCCTGG
Seq C2 exon
CTGTGTATTCTTATTACAACCAAGGCATTTTACCAGAGCAAGGCATACAAGATTCATTCAAAAAAGCAACACTGGGAAGATATGGGAGCTGTGGCCTTGAAAATATATGCTTATGGAAAAACTGGGAAAGTATAGGTGAAGGTGAAGGACAAAAGGAATGTTATAATCTATGTAGCCAATATTTGACAACTAGTCATAACAAACATTTAACTGTGAAAGGAGACAAAGAATATAGAATATTTCAGAAGAAGCCTCAGTTTCTGTCAGCTGCTCCTACAGAACCATGTATTCCTATGAATAAATATCAACATAAATTTTTGAAATCTGTCTTTTGTAATAAAAATCAGATAAATTTTAACCATGACTCAAATATTAGTAAACATCATAGTACTCATTTTCTAGAAAACTATTACAATTGTAATGAATGTGAAAAAGTATTTTACCAATCCTCAAAGCTTATTTTCCCTGAAAATATCCATATTCAAAAAAAGCCTTACAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175322_MULTIEX2-1/2=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.082
Domain overlap (PFAM):

C1:
NO
A:
PF0135222=KRAB=WD(100=95.3)
C2:
PF0135222=KRAB=PD(0.1=0.0),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.0),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGGTTAGGGCTTCATTGC
R:
ATTTTCAAGGCCACAGCTCCC
Band lengths:
244-371
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