Special

HsaEX0073877 @ hg19

Exon Skipping

Gene
ENSG00000183647 | ZNF530
Description
zinc finger protein 530 [Source:HGNC Symbol;Acc:29297]
Coordinates
chr19:58115645-58124285:+
Coord C1 exon
chr19:58115645-58115774
Coord A exon
chr19:58117054-58117811
Coord C2 exon
chr19:58123871-58124285
Length
758 bp
Sequences
Splice sites
3' ss Seq
CAGCATTTCTCTTCTTTCAGGTT
3' ss Score
9.7
5' ss Seq
CAGGTATCT
5' ss Score
7.33
Exon sequences
Seq C1 exon
CAGGTTTTTGTAGCCTTTGAGGATGTGGCCATTTACTTCTCCCAGGAGGAGTGGGAGCTCCTTGATGAGATGCAGAGGCTCCTGTACCGCGATGTGATGCTGGAGAACTTTGCAGTTATGGCATCCCTAG
Seq A exon
GTTGCTGGTGTGGAGCAGTAGATGAGGGGACGCCTTCTGCAGAGAGCGTTTCTGTGGAAGAACTGTCACAGGGCAGGACTCCAAAGGCAGATACATCCACTGATAAGAGTCACCCCTGTGAGATTTGTACCCCAGTCCTGAGAGACATTTTACAAATGATTGAGCTCCATGCCTCACCCTGTGGACAGAAATTGTACTTGGGTGGAGCATCAAGAGATTTCTGGATGAGTTCAAACCTTCACCAGCTCCAGAAGCTTGATAATGGAGAGAAGCTCTTTAAAGTGGATGGGGACCAGGCCTCATTTATGATGAACTGCAGGTTCCATGTGTCAGGAAAACCCTTCACGTTTGGGGAAGTCGGGAGGGACTTTTCAGCCACCTCAGGACTTCTCCAGCATCAGGTGACTCCCACCATTGAGAGACCACACAGCAGGATTAGACACTTGAGAGTTCCCACTGGACGAAAGCCTCTCAAATACACTGAATCCAGGAAATCTTTTAGAGAGAAATCTGTATTCATTCAACACCAAAGAGCTGACTCTGGAGAAAGGCCTTACAAGTGCAGTGAATGTGGGAAATCCTTTAGTCAAAGTTCTGGCTTTCTTCGACACAGGAAAGCACACGGTAGAACAAGGACTCATGAATGTAGTGAATGTGGGAAATCATTTAGTCGCAAAACTCACCTAACTCAACACCAAAGAGTTCACACTGGAGAAAGGCCTTATGACTGCAGTGAATGTGGCAAATCCTTTCGCCAG
Seq C2 exon
GTATTATTGAGTGTTTTCAAGAATGAAAAGAGGCCTGGCATGGTGGCTCACATCTGTAATCCCAACTTTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAAGAGTTTGAGGCTGCAGCAAGCTATGATCGTGCCACTACACTCCAGCCTGTGCAACACAGTGAGATCCTGTCTCCAAAATTAAATAAATAAATAAAATTACATTTTGGAGACTAAACGCTGCTTGTAGTCATAGTTCTAACACAGCTGTGTGCTCAGCTTCATTTGCTCACTTCTCAGAATTCAATGTCTCCTGCTCAAATTTTGCTGTCATCTTAACCGTTTTCACTTATCACAGATATGTTTCTCCAGGTCCATTTCGTCATGTATCTGTGAATAACTACAGAATTATTAACTTTGAGTAATTTGGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183647_MULTIEX1-2/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. Stop)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.172 C2=NA
Domain overlap (PFAM):

C1:
PF0135222=KRAB=WD(100=100.0),PF0006814=Phospholip_A2_1=PU(60.6=95.2)
A:
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)
C2:
PF0135222=KRAB=PD(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping 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:
GTAGCCTTTGAGGATGTGGCC
R:
ACAAGCAGCGTTTAGTCTCCA
Band lengths:
351-1109
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development