Special

HsaEX1044974 @ hg38

Exon Skipping

Gene
ENSG00000167637 | ZNF283
Description
zinc finger protein 283 [Source:HGNC Symbol;Acc:HGNC:13077]
Coordinates
chr19:43833505-43852017:+
Coord C1 exon
chr19:43833505-43833828
Coord A exon
chr19:43840886-43841044
Coord C2 exon
chr19:43846939-43852017
Length
159 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTATTTTTTAGTAG
3' ss Score
8.92
5' ss Seq
GAGGTACCA
5' ss Score
6.43
Exon sequences
Seq C1 exon
ATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCTTCTCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCCTTCTTTACCTATTTCTTAAGGATACATTTCTAGAAGTGAAGTTTTGG
Seq A exon
TAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAATGCTAGGATTACAGGTGTGGCCCACCGCACCTGGCCAATGACAATCTGTCTTTCCAGCTCAATTGTTGCTTTGATGGAG
Seq C2 exon
ATTTGGAGTCAAAAACGTATGAGACCAAAAAAATATTTTCAGAAAATGATATTTTTGAAATAAATTTTTCCCAGTGGGAGATGAAGGACAAAAGTAAAACCCTTGGCCTTGAGGCATCCATCTTCAGAAATAATTGGAAGTGCAAAAGCATATTCGAGGGACTAAAAGGACATCAAGAGGGATACTTCAGTCAAATGATAATCAGCTATGAAAAAATACCTTCTTACAGAAAAAGTAAATCTCTTACTCCACATCAAAGAATTCATAATACAGAGAAATCCTATGTTTGTAAGGAATGTGGGAAGGCTTGCAGTCATGGCTCAAAACTTGTTCAACATGAGAGAACTCATACAGCTGAAAAACACTTTGAATGTAAAGAATGTGGGAAGAATTATTTAAGTGCCTATCAACTCAATGTGCATCAGAGATTTCATACTGGTGAGAAACCCTATGAGTGTAAGGAATGTGGGAAGACCTTTAGCTGGGGATCAAGCCTTGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167637_MULTIEX1-8/8=4-C2
Average complexity
C3*
Mappability confidence:
100%=91=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.007
Domain overlap (PFAM):

C1:
PF139001=GVQW=PU(92.1=85.4)
A:
PF0135222=KRAB=PD(16.7=55.6)
C2:
PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
AGAGACGGGGTTTCACCATGT
R:
TGTCCTTCATCTCCCACTGGG
Band lengths:
249-408
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains