Special

HsaINT1048121 @ hg38

Intron Retention

Gene
Description
EGF like domain multiple 8 [Source:HGNC Symbol;Acc:HGNC:13944]
Coordinates
chr6:32166701-32167005:+
Coord C1 exon
chr6:32166701-32166810
Coord A exon
chr6:32166811-32166909
Coord C2 exon
chr6:32166910-32167005
Length
99 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
CCCACTTCCTCTGTCCTCAGCCA
3' ss Score
9.09
Exon sequences
Seq C1 exon
GACCATGTACCGCGTTATGTGGCGGGAGGTGAGGCGGGAGGTTCAGCAGACCCATGCAGTGTGCTGCCAGGGCTGGAAGAAGCGGCACCCGGGGGCGCTCACCTGTGAAG
Seq A exon
GTGAGGCTGGGTCTTCCGGGCCTTGCGGGAGGCGCGCCCCACGGAGCTGGGGAGCTGGGTCGTCGGTTTGAGTCTGAACCCCACTTCCTCTGTCCTCAG
Seq C2 exon
CCATCTGCGCCAAGCCTTGCCTGAACGGAGGCGTCTGCGTTAGGCCTGACCAGTGCGAGTGCGCCCCCGGCTGGGGAGGGAAGCACTGTCATGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241404:ENST00000395512:4
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(40.8=76.3)
A:
NA
C2:
PF0000822=EGF=WD(100=81.8),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
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:
GAGGTTCAGCAGACCCATGC
R:
CACATGACAGTGCTTCCCTCC
Band lengths:
168-267
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains