Special

HsaEX0073851 @ hg19

Exon Skipping

Gene
ENSG00000175322 | ZNF519
Description
zinc finger protein 519 [Source:HGNC Symbol;Acc:30574]
Coordinates
chr18:14084876-14132429:-
Coord C1 exon
chr18:14132274-14132429
Coord A exon
chr18:14105033-14106408
Coord C2 exon
chr18:14084876-14085075
Length
1376 bp
Sequences
Splice sites
3' ss Seq
GTTATTTTTACTTCTTTCAGCTG
3' ss Score
7.67
5' ss Seq
CACCTTACT
5' ss Score
-17.39
Exon sequences
Seq C1 exon
CACTTCAGCCAGAGCGCGGGGTTAGGGCTTCATTGCCTTGTGTCCTCTGCTCCGGGAGACTTCGGTGATTCTGCCACTCACTCCGTCGCTCTGTGACCTGCTGGCATTGAATGATTTATAGCTAAGACTCCAGGACACCCCTGAAGCCGAGAAATG
Seq A exon
CTGTGTATTCTTATTACAACCAAGGCATTTTACCAGAGCAAGGCATACAAGATTCATTCAAAAAAGCAACACTGGGAAGATATGGGAGCTGTGGCCTTGAAAATATATGCTTATGGAAAAACTGGGAAAGTATAGGTGAAGGTGAAGGACAAAAGGAATGTTATAATCTATGTAGCCAATATTTGACAACTAGTCATAACAAACATTTAACTGTGAAAGGAGACAAAGAATATAGAATATTTCAGAAGAAGCCTCAGTTTCTGTCAGCTGCTCCTACAGAACCATGTATTCCTATGAATAAATATCAACATAAATTTTTGAAATCTGTCTTTTGTAATAAAAATCAGATAAATTTTAACCATGACTCAAATATTAGTAAACATCATAGTACTCATTTTCTAGAAAACTATTACAATTGTAATGAATGTGAAAAAGTATTTTACCAATCCTCAAAGCTTATTTTCCCTGAAAATATCCATATTCAAAAAAAGCCTTACAACTCTAATGAATGTGGTGAAACTTCTGACCCATTCTCAAAGCTTACTCAACATCAAAGAATTTATATTGGAGAGAGCTCACAAAGATGTAATAAAAAATGTATAATAGTCTTTAGTCAATCACATCTAAAGGGACATAAGATAATTAACACTGGAGAAAAATCAGTGAAATATAAAGAACGTGGCAAAGCTTTTACCAGGGGCTTACATCTTGGACATCAGAAAATTCATACTGGAGAGAAACCTTACAAATGTAAAAAATGTGACAAAGCCTTTAACAAGAGTTCACACCTTGCTCAACATCAGAGAATCCATACTGGAGAGAAGCCTTTCAAGTGTAAGGAATGTGGCAAAGCTTTTAACAGAGGCTCATACCTTACTCAACATCAGAGAATCCATACTGGAGAGAGAGCTTTCAAATGTGAAGAATGTGGCAAAGCCTTTAACAGGGGGTCATACCTTACTCAACACCAGAGAATCCATACCGGAGAGAAACCTTTCAGATGTAAGGAATGTGGCAAAGCCTTTAATAGAAGCTCATACGTTACTCAGCATCAGAGAATGCATACTGGAGAGAAACCTTTCAAGTGTAAGGAATGTGGCAAAGCTTTTAACAGAGCTTCACACCTTACTCAACATCAGAGAATCCATACTGGAGAGAAACACTTCAAATGTAAAGAATGTGGCAAAGCCTTTAACAGGGGCTCACACCTTACTCGACATCAAAGAATCCATACTGGAGAGAAGTCTTTCAAATGTGAAGAATGTGGCAAAGCTTTTATCTGGGGCTCACACCTTACTCAACATCAGAGAGTCCATACTGGAGAGAAATTCTTCAAATGTAAAGAATGTGGCAAAGCTTTTACCAGGAGCTCACAC
Seq C2 exon
TGGAAAAGCGAGATTGTCTTTGACCATTTGCTATGGACATTGTCAGGGATGGTGCAGCCTGAATGAGAATGTCTGCGGTATTTCCCGAAATAAGTATCCCTCAAGGATGATACTGTGGACCTCACTCAGGAAGAATGTGTCCTTCAGGGAAAGCTGCACAGAGACGTGATGCTGGAGAAGCAGTCATCTGGTTACTTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175322_MULTIEX2-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. Stop)

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

C1:
NO
A:
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)
C2:
PF0135222=KRAB=PD(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTTCAGCCAGAGCGCG
R:
ACCAGATGACTGCTTCTCCAG
Band lengths:
348-1724
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