Special

HsaEX6094728 @ hg38

Exon Skipping

Gene
ENSG00000188283 | ZNF383
Description
zinc finger protein 383 [Source:HGNC Symbol;Acc:HGNC:18609]
Coordinates
chr19:37235549-37243658:+
Coord C1 exon
chr19:37235549-37235675
Coord A exon
chr19:37235979-37236074
Coord C2 exon
chr19:37242469-37243658
Length
96 bp
Sequences
Splice sites
3' ss Seq
ATATCTTTTCTCGTGAGCAGGAC
3' ss Score
7.5
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGATCAGTGATGTTCAGTGATGTGTCCATAGACTTCTCTCAGGAGGAGTGGGACTGCCTGGACCCTGTTCAGAGGGACTTATACAGAGATGTGATGTTGGAGAACTACGGCAATCTGGTTTCAATGG
Seq A exon
GACTTTACACTCCTAAGCCTCAAGTGATCTCCTTATTGGAACAAGGGAAAGAGCCCTGGATGGTTGGCAGAGAGCTTACAAGAGGCCTGTGTTCAG
Seq C2 exon
ATCTGGAATCGATGTGTGAAACCAAGTTATTATCTCTAAAGAAGGAAGTTTATGAAATAGAATTATGCCAGAGGGAGATAATGGGACTTACAAAGCATGGCCTTGAGTACTCCAGTTTTGGAGATGTTTTGGAATATAGAAGCCACCTTGCAAAACAACTGGGATATCCAAATGGGCATTTTAGTCAAGAAATATTCACTCCTGAATACATGCCCACATTTATTCAACAGACATTCCTTACTCTCCATCAAATAATTAATAATGAAGACAGACCCTATGAATGTAAGAAATGTGGAAAGGCCTTTAGTCAGAACTCACAATTTATTCAACATCAGAGAATTCATATTGGTGAAAAATCTTATGAATGTAAAGAGTGTGGGAAATTCTTTAGTTGTGGTTCACATGTTACTCGGCATCTGAAAATTCATACTGGCGAAAAACCCTTTGAATGTAAGGAATGTGGAAAGGCCTTCAGTTGTAGCTCATACCTTTCTCAACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188283-'20-20,'20-18,22-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.044
Domain overlap (PFAM):

C1:
PF0135222=KRAB=WD(100=95.3)
A:
PF0135222=KRAB=PD(0.1=0.0)
C2:
PF0009621=zf-C2H2=WD(100=5.8),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5),PF134651=zf-H2C2_2=WD(100=6.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
CTCTCAGGAGGAGTGGGACTG
R:
TCCCATTATCTCCCTCTGGCA
Band lengths:
178-274
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains