Special

HsaINT1012246 @ hg38

Intron Retention

Gene
Description
EGF like domain multiple 8 [Source:HGNC Symbol;Acc:HGNC:13944]
Coordinates
chr6:32166138-32166620:+
Coord C1 exon
chr6:32166138-32166266
Coord A exon
chr6:32166267-32166497
Coord C2 exon
chr6:32166498-32166620
Length
231 bp
Sequences
Splice sites
5' ss Seq
GAGGTGACA
5' ss Score
3.85
3' ss Seq
ATCCTCTGGCATGGACGCAGTCA
3' ss Score
1.74
Exon sequences
Seq C1 exon
CCTGTAGGGTCCAGCGTCAAAGCGAATCATGGGGTCCAGGGCTGAGCTGTGCACTCTCTTAGGCGGATTCTCCTTCCTCCTGCTACTGATACCAGGCGAGGGGGCCAAGGGTGGATCCCTCAGAGAGAG
Seq A exon
GTGACAACAGAGGGGGTAGGGCCCGGGGTGAGCTCTTCTCAGGAGCCTTCTGCTGGGGGTGGGGCTTCACAGGAGGCAAAACATAACTGTAAGTTTAGAATGGGGGTGAGAGGCTGTCATCTGGAGGGAGAGCGGGGGGCCTCAGTAGCCTCTTGAGGGAAGTGGGACTCCTGGCTCCCCAGGGCCTGGCCTACTCAATCTCTCCCACCTCATCCTCTGGCATGGACGCAG
Seq C2 exon
TCAGGGAGTCTGCTCCAAGCAGACACTGGTGGTCCCGCTCCACTACAACGAGTCCTACAGCCAACCAGTGTACAAGCCCTACCTGACCTTGTGCGCTGGGAGGCGCATCTGCAGCACTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241404:ENST00000395512:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

C1:
PF075468=EMI=PU(0.1=0.0)
A:
NA
C2:
PF075468=EMI=PU(57.7=97.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGTAGGGTCCAGCGTCAAA
R:
CTGTAAGTGCTGCAGATGCGC
Band lengths:
252-483
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains