HsaINT1048123 @ hg38
Intron Retention
Gene
ENSG00000241404 | EGFL8
Description
EGF like domain multiple 8 [Source:HGNC Symbol;Acc:HGNC:13944]
Coordinates
chr6:32167087-32167429:+
Coord C1 exon
chr6:32167087-32167257
Coord A exon
chr6:32167258-32167349
Coord C2 exon
chr6:32167350-32167429
Length
92 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
3' ss Seq
TTGGTCTCCTTTGTCCCTAGTTC
3' ss Score
9.48
Exon sequences
Seq C1 exon
ACGTGGATGAATGTAGGACCAGCATCACCCTCTGCTCGCACCATTGTTTTAATACGGCAGGCAGCTTCACCTGCGGCTGCCCCCATGACCTAGTGCTAGGCGTGGACGGGCGCACCTGCATGGAGGGGTCCCCAGAGCCCCCAACCAGTGCCAGCATACTCAGCGTGGCCG
Seq A exon
GTGAGTGGGCAGGAGTACGGGCCACCCGAGGGACTCGGGACGGGCGTCCGGGCTCGGGTAGTGGTCACACTCTTGGTCTCCTTTGTCCCTAG
Seq C2 exon
TTCGGGAGGCGGAAAAAGATGAGCGCGCTCTGAAGCAGGAGATTCACGAGCTGCGAGGGCGCCTGGAGCGGCTGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241404:ENST00000395512:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.130 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=69.0)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTAGGACCAGCATCACCCTCT
R:
CATCTTTTTCCGCCTCCCGAA
Band lengths:
180-272
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains