Special

HsaINT0054576 @ hg38

Intron Retention

Gene
Description
EGF like domain multiple 7 [Source:HGNC Symbol;Acc:HGNC:20594]
Coordinates
chr9:136668241-136668673:+
Coord C1 exon
chr9:136668241-136668362
Coord A exon
chr9:136668363-136668556
Coord C2 exon
chr9:136668557-136668673
Length
194 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGC
5' ss Score
8.19
3' ss Seq
CCCCCTCTCCACCCCCGCAGCCG
3' ss Score
10.67
Exon sequences
Seq C1 exon
GCCACCCAGAGGAGAAGGCCACCCCGCCTGGAGGCACAGGCCATGAGGGGCTCTCAGGAGGTGCTGCTGATGTGGCTTCTGGTGTTGGCAGTGGGCGGCACAGAGCACGCCTACCGGCCCGG
Seq A exon
GTGAGCCAAGCCCTAGCCTGGGAGTGCTGGGGTGGGGGGACCGGGAGCCCTCAGCACCTCCTAGAGGCGGCCCTCAGCACCTGTCGGGGACTCCCTGGGGGCTCCTGCTGAGGGTCCTGCCCCGGCCACATGTTCCCATCATTCTTGGGTCCTGCTCTGGGACTCCTGGGCTGACCCCCTCTCCACCCCCGCAG
Seq C2 exon
CCGTAGGGTGTGTGCTGTCCGGGCTCACGGGGACCCTGTCTCCGAGTCGTTCGTGCAGCGTGTGTACCAGCCCTTCCTCACCACCTGCGACGGGCACCGGGCCTGCAGCACCTACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172889:ENST00000371699:3
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(55.7=97.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCAGAGGAGAAGGCCAC
R:
GGTAGGTGCTGCAGGCCC
Band lengths:
235-429
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