HsaEX0073851 @ hg38
Exon Skipping
Gene
ENSG00000175322 | ZNF519
Description
zinc finger protein 519 [Source:HGNC Symbol;Acc:HGNC:30574]
Coordinates
chr18:14084877-14132430:-
Coord C1 exon
chr18:14132275-14132430
Coord A exon
chr18:14105034-14106409
Coord C2 exon
chr18:14084877-14085076
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_MULTIEX1-4/12=C1-7
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.082 C2=0.000
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)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
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