Special

HsaEX0046979 @ hg19

Exon Skipping

Gene
Description
PHD finger protein 17 [Source:HGNC Symbol;Acc:30027]
Coordinates
chr4:129782859-129796379:+
Coord C1 exon
chr4:129782859-129783380
Coord A exon
chr4:129789011-129789128
Coord C2 exon
chr4:129792510-129796379
Length
118 bp
Sequences
Splice sites
3' ss Seq
CTTTATTCTCTACATTCTAGGTT
3' ss Score
9.51
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
CAGCCTTCCATGTGACCTGTGCTTTTGACCGGGGCCTGGAGATGAAGACCATCTTAGCAGAGAATGATGAAGTCAAGTTCAAGTCCTATTGCCCAAAGCACAGCTCACATAGGAAACCCGAGGAGAGTCTTGGCAAGGGGGCTGCACAGGAGAATGGGGCCCCTGAGTGTTCCCCCCGGAATCCGCTGGAGCCCTTTGCCAGCCTTGAGCAGAACCGGGAGGAGGCCCACCGGGTGAGTGTCCGTAAGCAGAAGCTGCAGCAGTTGGAGGATGAGTTCTACACCTTCGTCAACCTGCTGGATGTTGCCAGGGCTCTGCGGCTGCCTGAGGAAGTAGTGGATTTCCTGTACCAGTACTGGAAGTTGAAGAGGAAGGTCAACTTCAACAAGCCCCTGATCACCCCAAAGAAAGATGAAGAGGACAATCTAGCCAAGCGGGAGCAGGATGTCTTATTTAGGAGGCTGCAGCTGTTCACGCACCTGCGGCAGGACCTGGAGAGG
Seq A exon
GTTCGGAACCTCACTTACATGGTGACCCGCAGGGAAAAGATTAAACGGTCTGTGTGCAAAGTCCAGGAACAGATATTCAATCTTTACACTAAGCTTTTGGAGCAAGAAAGAGTTTCAG
Seq C2 exon
GTGTGCCTTCTTCCTGCTCCTCCTCCTCACTGGAAAACATGCTTTTGTTTAACAGTCCTTCTGTTGGCCCTGATGCTCCCAAGATAGAGGACTTGAAGTGGCATTCTGCATTCTTCAGAAAACAAATGGGTACTTCCTTGGTTCATTCGCTGAAAAAGCCCCATAAGCGAGATCCTTTGCAGAATAGCCCTGGAAGTGAAGGCAAAACCCTGCTGAAGCAGCCAGACCTGTGTGGTAGAAGGGAGGGGATGGTGGTCCCAGAGAGCTTTTTGGGTTTAGAAAAGACCTTTGCAGAAGCACGTCTCATATCAGCACAACAGAAAAATGGTGTGGTGATGCCAGACCATGGGAAAAGAAGAGACAATCGTTTTCATTGTGATCTCATTAAAGGAGACTTAAAGGACAAATCTTTTAAACAGAGTCACAAGCCTCTCAGGTCCACAGATGTGTCCCAGAGGCATCTGGACAACACAAGAGCTGCCACCTCCCCTGGAGTGGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077684_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.230 A=0.080 C2=0.639
Domain overlap (PFAM):

C1:
PF138321=zf-HC5HC2H_2=PD(35.4=23.0),PF087466=zf-RING-like=PD(61.1=12.6)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAATCTAGCCAAGCGGGAG
R:
AGGATCTCGCTTATGGGGCTT
Band lengths:
257-375
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development