Special

HsaINT0054578 @ hg38

Intron Retention

Gene
Description
EGF like domain multiple 7 [Source:HGNC Symbol;Acc:HGNC:20594]
Coordinates
chr9:136669606-136670009:+
Coord C1 exon
chr9:136669606-136669721
Coord A exon
chr9:136669722-136669913
Coord C2 exon
chr9:136669914-136670009
Length
192 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CCAGCCTCCCCCGCCCACAGCAA
3' ss Score
7.68
Exon sequences
Seq C1 exon
AACCATCTATAGGACCGCCTACCGCCGCAGCCCTGGGCTGGCCCCTGCCAGGCCTCGCTACGCGTGCTGCCCCGGCTGGAAGAGGACCAGCGGGCTTCCTGGGGCCTGTGGAGCAG
Seq A exon
GTGAGGGCTATGTCCCTCGGCGCCCGGTGTTAGGAGGGCGACTGTTCCCCAATCTTCCAGCAACGCTCCTGCTGCTTTTCTTGAACCCCGAGCAAAGCACCACCTTGCCGCAGAGCACCCACTCCCTAGCAGCTGCCCCCACAGGGTGCTGGGGACCCAACTGAGCTGGTGACCAGCCTCCCCCGCCCACAG
Seq C2 exon
CAATATGCCAGCCGCCATGCCGGAACGGAGGGAGCTGTGTCCAGCCTGGCCGCTGCCGCTGCCCTGCAGGATGGCGGGGTGACACTTGCCAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172889:ENST00000371699:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF075468=EMI=PD(42.9=75.0)
A:
NA
C2:
PF079748=EGF_2=WD(100=84.8),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCCAGGCCTCGCTAC
R:
CTGACTGGCAAGTGTCACCC
Band lengths:
169-361
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