Special

HsaINT0123883 @ hg38

Intron Retention

Gene
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28907590-28908881:-
Coord C1 exon
chr17:28908783-28908881
Coord A exon
chr17:28907673-28908782
Coord C2 exon
chr17:28907590-28907672
Length
1110 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
CTACTCCTGCCACCTTGCAGGAG
3' ss Score
8.53
Exon sequences
Seq C1 exon
TGCAAAGAAAGGAGGTACAGGCCCGAGCTGTGTTCTACCCCCTCTTAGGGTTGGGAGGAGCTGTGAACATGTGCTATCGAACCCTCTACATCGGGACAG
Seq A exon
GTGAGCCAGCCAGGAAGCTGGGAGAGACACTGAATCTGTTCAGCCCTAAAGACTGACACCCTTACCCACAGAAGTTAGAAAGGGGTGAGGGAAGCCCTTTCCAGAGTTGACTGCTTTAAATCAGTGGATAGCTAGACAAGAGAAACTAAGAATAGAGACAATCAGCCAGTCACGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGGACAAGGCAGGAGGAACACTTGAGCCCAGGACTTCGAGACCAGCCTGGGCAACATGGTGAAACCCTATCTCTACCAAAAACAAATATAAAAAATTAGCTGGGCTAACATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACCTGAGGCTGGGAGGTCCAGGCAGTGATCCTTTTTGTGCCTCTGCACTCCAGCCCAGGCAACAGAGTGAGACCCTGTCTCAAAAATAAAAGAGACAATCAGTTCCTTGTCTTCCCTTGTTCAGGCCCTTTTGCTTTGTCTTTGCCCAGTGTTGCAACAGCAGAGATGAAAGTCAGCTCTGACTACTGCCCAGGGAGGCACTTTAAACACTGCAGGGAAGAACCTAAGGAGAAGGCAGATGCTTTGTCCCTGGTGGTCTTTGAAAGAGTGATAGACTCACACATACCCAATCTTCAGTTAGCCCTGTATCTGTTTTTTGTTTTGTTTTGTTTTCCCTAAAAGTCCTAGAGACCGATAGCTCTGTATCTGGTACAGAAGGACAGACAGATTAGCCCTTACCCTAGAAACTTCCCTTTCTTTAAGGTGATAAGATTTTCTAGGCTCTGCACCCCGATGTTGTATTTTCATAGAAATATCCCATCCTCTTCAGTAGCTCACTCTTCCCTTCTGGGTAGCAGCCACATGTTCTAAAGCAGATCAGCTGGCAGGGACAGCTGTTCTTTATCAGGAGCTTGGAAAAGACAACAGTTTTTGTTCAAAAATAAAAGGGGAGGGCCCTGAGCTACTCACCCTTGAAGTCTCTGCTAGTGCCAACCCAGAAGCTAACTCTCTCCCTGTCTTACCTCCCCGACACATGCACCTTACAATCTGTTCTCTGCCTTCCTTTTCCTCTACTCCTGCCACCTTGCAG
Seq C2 exon
GAGCTGACATGGATGTGTGCCTTACAAACTATGGTCACTGTAACTACGTGTCCGGGAAACATGCCTGCATATTCTACGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118:ENST00000332830:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.239 A=NA C2=0.067
Domain overlap (PFAM):

C1:
PF0049821=FHA=PU(7.7=14.7)
A:
NA
C2:
PF0049821=FHA=FE(41.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAAGAAAGGAGGTACAGGC
R:
CTCATCGTAGAATATGCAGGCA
Band lengths:
182-1292
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