HsaEX1045206 @ hg38
Exon Skipping
Gene
ENSG00000183647 | ZNF530
Description
zinc finger protein 530 [Source:HGNC Symbol;Acc:HGNC:29297]
Coordinates
chr19:57604277-57608267:+
Coord C1 exon
chr19:57604277-57604406
Coord A exon
chr19:57604671-57604763
Coord C2 exon
chr19:57605686-57608267
Length
93 bp
Sequences
Splice sites
3' ss Seq
CCTTGCCTTCTCCATGACAGGAT
3' ss Score
9.15
5' ss Seq
CAGGTATCA
5' ss Score
7.33
Exon sequences
Seq C1 exon
CAGGTTTTTGTAGCCTTTGAGGATGTGGCCATTTACTTCTCCCAGGAGGAGTGGGAGCTCCTTGATGAGATGCAGAGGCTCCTGTACCGCGATGTGATGCTGGAGAACTTTGCAGTTATGGCATCCCTAG
Seq A exon
GATGGCTTTCTCCAGTTCTAGGATGCTCTTTGTTCCATGTTCTGCCTTTTGCTTCTAACTAAAATCTCAAGCTGCCTGTTTCAGGAATTGCAG
Seq C2 exon
GTTGCTGGTGTGGAGCAGTAGATGAGGGGACGCCTTCTGCAGAGAGCGTTTCTGTGGAAGAACTGTCACAGGGCAGGACTCCAAAGGCAGATACATCCACTGATAAGAGTCACCCCTGTGAGATTTGTACCCCAGTCCTGAGAGACATTTTACAAATGATTGAGCTCCATGCCTCACCCTGTGGACAGAAATTGTACTTGGGTGGAGCATCAAGAGATTTCTGGATGAGTTCAAACCTTCACCAGCTCCAGAAGCTTGATAATGGAGAGAAGCTCTTTAAAGTGGATGGGGACCAGGCCTCATTTATGATGAACTGCAGGTTCCATGTGTCAGGAAAACCCTTCACGTTTGGGGAAGTCGGGAGGGACTTTTCAGCCACCTCAGGACTTCTCCAGCATCAGGTGACTCCCACCATTGAGAGACCACACAGCAGGATTAGACACTTGAGAGTTCCCACTGGACGAAAGCCTCTCAAATACACTGAATCCAGGAAATCTTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183647_MULTIEX1-4/6=3-5
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.184
Domain overlap (PFAM):
C1:
PF0135222=KRAB=WD(100=100.0)
A:
PF0135222=KRAB=PD(0.1=0.0)
C2:
PF0135222=KRAB=PD(0.1=0.0),PF0009621=zf-C2H2=WD(100=4.2),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8)
Main Inclusion Isoform:
ENST00000332854fB30802
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GTAGCCTTTGAGGATGTGGCC
R:
TTCCACAGAAACGCTCTCTGC
Band lengths:
180-273
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains