Special

HsaEX0073917 @ hg38

Exon Skipping

Gene
ENSG00000204519 | ZNF551
Description
zinc finger protein 551 [Source:HGNC Symbol;Acc:HGNC:25108]
Coordinates
chr19:57681979-57688028:+
Coord C1 exon
chr19:57681979-57682244
Coord A exon
chr19:57685262-57685385
Coord C2 exon
chr19:57686481-57688028
Length
124 bp
Sequences
Splice sites
3' ss Seq
AACTATTCCTGCTGTGACAGGGT
3' ss Score
4.66
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
AACTTCCGGCGTCCTCCTCGTGGCGGTCATTTTGGCCTCTGTCCTGTTTGTCCAGCCCGCCAGTTTCTGCAGTGGAGGTCGCGACTGAGGGACGGGACAGAGAAGTCGCGAAAGTGGGCCAGAGGTTCTGCGACACCACCTCGGGTGAGCTGCGCCAGGCCCGGGATAGGGACTGTTGTGTTCGAATGCCCGCCCCGGTCGGCCGCCGCTCCCCGCCTAGTCCACGGAGCTCAATGGCGGCAGTCGCGCTGAGGGACTCGGCTCAG
Seq A exon
GGTATGACCTTTGAGGATGTGGCCATTTATTTCTCCCAAGAAGAGTGGGAGCTCCTTGATGAGTCTCAGAGGTTCCTGTACTGCGATGTGATGCTGGAGAACTTTGCACATGTAACATCCCTGG
Seq C2 exon
GTTATTGCCATGGAATGGAGAATGAGGCGATAGCTTCTGAGCAGAGTGTATCTATACAGGTCAGGACTTCTAAGGGCAATACACCCACCCAGAAAACTCACCTCAGTGAGATTAAGATGTGTGTCCCAGTCTTGAAAGACATTTTGCCTGCGGCTGAGCACCAAACCACATCCCCTGTGCAAAAGTCATACTTGGGTAGCACAAGCATGAGAGGCTTCTGCTTCAGTGCTGACCTTCACCAGCATCAAAAGCATTACAATGAAGAAGAGCCCTGGAAAAGGAAGGTGGATGAGGCTACATTTGTGACCGGCTGCAGATTCCATGTGTTGAATTATTTCACCTGTGGGGAGGCCTTCCCAGCCCCCACGGACCTACTCCAACACGAAGCCACTCCCAGTGGTGAGGAGCCACACAGTAGCAGCAGCAAGCATATACAGGCATTTTTCAATGCAAAAAGTTATTACAAGTGGGGTGAATACAGAAAAGCTTCAAGCCACAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204519-'1-3,'1-0,4-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.652 A=0.000 C2=0.107
Domain overlap (PFAM):

C1:
NO
A:
PF0135222=KRAB=WD(100=100.0)
C2:
PF0135222=KRAB=PD(0.1=0.0),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3),PF134651=zf-H2C2_2=WD(100=4.3)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000594684fB8490


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
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:
GAAAGTGGGCCAGAGGTTCTG
R:
TGGGTGGGTGTATTGCCCTTA
Band lengths:
248-372
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