Special

HsaEX0046975 @ hg19

Exon Skipping

Gene
Description
PHD finger protein 17 [Source:HGNC Symbol;Acc:30027]
Coordinates
chr4:129776785-129783380:+
Coord C1 exon
chr4:129776785-129776952
Coord A exon
chr4:129778493-129778609
Coord C2 exon
chr4:129782859-129783380
Length
117 bp
Sequences
Splice sites
3' ss Seq
TGCTGTTTTCCGACCTTTAGGTG
3' ss Score
9.79
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
GCCTGTTATGGAATCCTCAAGGTACCAGAGGGCAGCTGGCTGTGCCGGACATGTGCCCTGGGGGTTCAGCCAAAATGTCTGCTGTGTCCGAAGAAGGGTGGAGCTATGAAGCCCACCCGTAGCGGAACCAAGTGGGTCCACGTTAGCTGTGCTCTGTGGATCCCTGAG
Seq A exon
GTGAGCATTGGCAGCCCAGAGAAGATGGAGCCCATCACCAAGGTGTCACACATTCCCAGCAGCCGGTGGGCGCTAGTGTGCAGCCTCTGCAATGAGAAGTTTGGGGCCTCTATACAG
Seq C2 exon
TGCTCTGTGAAGAACTGCCGCACAGCCTTCCATGTGACCTGTGCTTTTGACCGGGGCCTGGAGATGAAGACCATCTTAGCAGAGAATGATGAAGTCAAGTTCAAGTCCTATTGCCCAAAGCACAGCTCACATAGGAAACCCGAGGAGAGTCTTGGCAAGGGGGCTGCACAGGAGAATGGGGCCCCTGAGTGTTCCCCCCGGAATCCGCTGGAGCCCTTTGCCAGCCTTGAGCAGAACCGGGAGGAGGCCCACCGGGTGAGTGTCCGTAAGCAGAAGCTGCAGCAGTTGGAGGATGAGTTCTACACCTTCGTCAACCTGCTGGATGTTGCCAGGGCTCTGCGGCTGCCTGAGGAAGTAGTGGATTTCCTGTACCAGTACTGGAAGTTGAAGAGGAAGGTCAACTTCAACAAGCCCCTGATCACCCCAAAGAAAGATGAAGAGGACAATCTAGCCAAGCGGGAGCAGGATGTCTTATTTAGGAGGCTGCAGCTGTTCACGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077684-'24-20,'24-19,26-20
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=0.051 C2=0.230
Domain overlap (PFAM):

C1:
PF0013017=C1_1=PD(20.7=21.4),PF138311=PHD_2=PD(51.4=32.1),PF138321=zf-HC5HC2H_2=PU(28.3=57.1)
A:
PF138321=zf-HC5HC2H_2=FE(33.6=100),PF087466=zf-RING-like=PU(33.3=30.8)
C2:
PF138321=zf-HC5HC2H_2=PD(35.4=23.0),PF087466=zf-RING-like=PD(61.1=12.6)


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:
TGGGGGTTCAGCCAAAATGTC
R:
TATGTGAGCTGTGCTTTGGGC
Band lengths:
243-360
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