Special

HsaEX0073623 @ hg38

Exon Skipping

Gene
ENSG00000196724 | ZNF418
Description
zinc finger protein 418 [Source:HGNC Symbol;Acc:HGNC:20647]
Coordinates
chr19:57925623-57933963:-
Coord C1 exon
chr19:57933817-57933963
Coord A exon
chr19:57930428-57930554
Coord C2 exon
chr19:57925623-57928047
Length
127 bp
Sequences
Splice sites
3' ss Seq
ATCTGTCACCATCATAGCAGGGC
3' ss Score
3.52
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
TCGGTGGGGAGGCAAGAGGGCGGCGAGGAGGTGATGTTACCACAGTCCCATTTGTCTGCAGGCATCATCTGGCTGCAAAGAAGAGAACACACTGTGTTTGAGGGAGGAGGAAGGAGGATCAGAGTTTAAACTCCTGCCATAATGCAG
Seq A exon
GGCACTGTGGCATTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAGTGGAGTCTCCTTAGTGAGGTTCAGAGATGCCTTTACCATGACGTGATGCTGGAGAACTGGGTACTTATATCCTCCCTGG
Seq C2 exon
GTTGTTGGTGTGGATCAGAAGATGAGGAGGCACCTTCTAAGAAGAGCATTTCTATACAAAGAGTGTCTCAGGTCAGCACTCCTGGGGCAGGTGTGTCTCCCAAGAAGGCCCACTCTTGTGAAATGTGTGGCGCGATCTTGGGAGACATTTTGCACTTGGCAGATCATCAGGGGACACATCACAAGCAGAAACTGCACAGGTGTGAGGCATGGGGGAATAAATTGTATGATAGTTCAAACCGTCCGCACCAGAATCAGTACCTTGGAGAGAAACCCTATAGAAGCAGTGTTGAGGAAGCATTGTTTGTGAAGAGGTGTAAGTTCCATGTGTCAGAGGAGTCATCTATCTTCATTCAGAGTGGAAAGGACTTTTTGCCCAGCTCAGGATTACTGCTGCAGGAGGCCACTCACACTGGGGAGAAGTCAAACAGCAAACCTGAGTGTGAGTCTCCCTTTCAGTGGGGAGATACTCATTACAGCTGTGGAGAATGCATGAAACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196724-'9-11,'9-9,12-11
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.122
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=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=3.9),PF134651=zf-H2C2_2=WD(100=3.8),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=3.8),PF134651=zf-H2C2_2=WD(100=4.1)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000595830fB8128


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCATTTGTCTGCAGGCATC
R:
CAAGATCGCGCCACACATTTC
Band lengths:
242-369
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