Special

HsaINT0102299 @ hg19

Intron Retention

Gene
Description
milk fat globule-EGF factor 8 protein [Source:HGNC Symbol;Acc:7036]
Coordinates
chr15:89441914-89444966:-
Coord C1 exon
chr15:89444782-89444966
Coord A exon
chr15:89442764-89444781
Coord C2 exon
chr15:89441914-89442763
Length
2018 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
GACACCCGCTCTGCCTCTAGATC
3' ss Score
9.96
Exon sequences
Seq C1 exon
GATGCGCCAATCCCCTGGGCCTGAAGAATAACAGCATCCCTGACAAGCAGATCACGGCCTCCAGCAGCTACAAGACCTGGGGCTTGCATCTCTTCAGCTGGAACCCCTCCTATGCACGGCTGGACAAGCAGGGCAACTTCAACGCCTGGGTTGCGGGGAGCTACGGTAACGATCAGTGGCTGCAG
Seq A exon
GTGGGTCAGCCTTCTTGGGATATGGGGCTGGGGTTGGGTGGGATGAGGTGGGACTGCCAGATCTTTGACCTCTCTCCAGCCCAGGCTTCTCTTCTGCTCCCCAAAAGAGTTCTGGAAAAGCCTTGTTTTTCTTCGGCTTTTCTTTCTTCTTCCCACCTGTACTCCCTTCTCTTGATCCTGCTTCCACCAAGGTGGAGAAAGGGTGTGTGTGTGTATGTGTGTGTGTGTGTGAATGTGTGTGTGTGAGTGTGTGAATGTGTGTGAATGTGAGTGTGTGTGAATGCGTGCGTGTGAATGCGTGCGTGTGAATGTGTGTGTGAATGTGTATGTGTGAATGTGTGTGTGTGAATGTGTGAATGTGTGTGTGAATGTGTGAGAATGTGTGTGAATGTGTGTGTGAGAATGTGTGTGTGAATGTGTGTGTGTGAATGTGTATGTGTGAATGTGTATTTGTGAATGTGTGTGAATGTGTATGTGAATGTGTATGTGAATGTGTATGTGTGAATGTGTGTGAATATGTGTGTGTGAGAATGTGTGTGTGTGTGTGAATGTGTGTGTGTGAATGTGTGTGTGTGAATGTGTGTGTATGTGTGTACACAAGGGGAGAGCCATTCCATGGGCTGCCACAGGATTGACAAGGCTCAGCCTATGGACAGACAGCAGGGCGGAGGCGGAAGAGGGAGACATGACCCAGGCATCTTGGGACCTCTCCCTTGAGCACAGCATACATATTCTCTGACTCAGTGTCTAAGAAGCCACCATGTGACAGCCCTTGTCTGTCATTGAAACTAGGAAACAAAAGAGAGCCATGGAAAACCGGAGCTTGTTTTATAGATGAGGAAGCCGAGAGCTGGCAGGACGATGATCTGCCTAGTACCCACCTGCTGGCTGGCAGTGAGTTGGGTTTACACCTGGATGTTGGGGAACTGTGTGTCCAGGTGCAGCTGGCAGGTTCTCCAGGGAGGTCAGGGACCGGGGACAGGAGGTCTGTCTCAGGGCCCCATGGAGCACACTGCGGAGCTGGGTTCCCTGAGGAGCTGCCTGCCTGTGGACACCCTCAGGACCAGTGTCAGACTGTGGGCGGCGCCGCAGGGAGCCTCTAGAGCAGTTCATGCCCCTCCAGGCTGTGGCCTCTCCTGTCCTTCTTCCCATCACAGTGCAGTGCAGGTCTCAGGCAGGGGTGGTTGGCGTGGAGTTGGCCAGGGCCCAGACCCTATGAGCTTTATAGCAGTGAGGTACCGAACACCATGTGTGGCAAAGTAGGTGGTATTATTTATGCCCCCTCACCGCTTTTTTTTTTTTTTTTTCTGAGACAGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGGTTCTTCTGACTCAGCCTCCCTAGTAGCTGGGATTACAGGCAGCCACCATCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAAGTCTCTCCCAAAGTGTTGGGATTATAGGCATGAGACACCATGTCCGGCCTTATGCCCATTTTATAGCCAAAGAAACTGAGGCTCACCCAAGTAGTTTTTTTCAAAACTAGAATTCATGCCTCAGTGTGTCTGCCTCTTTTCACCTTACTGGAGATGGTCCAAGCAGAGAAAATGTGGTTGGTTTCTTCTGTAGGTGGACCTGGGCTCCTCGAAGGAGGTGACAGGCATCATCACCCAGGGGGCCCGTAACTTTGGCTCTGTCCAGTTTGTGGCATCCTACAAGGTTGCCTACAGTAATGACAGTGCGAACTGGACTGAGTACCAGGACCCCAGGACTGGCAGCAGTAAGGTGGGTGTCTGTCCAGCTGCCCACCCTTTGCCATTCCTTCATTACTTCCCTGGGAGTCTGGCCTGGGGCTCTGAGGGGAGGGGGGCTGGCTCGGGGTCCTCCTGACACCCGCTCTGCCTCTAG
Seq C2 exon
ATCTTCCCTGGCAACTGGGACAACCACTCCCACAAGAAGAACTTGTTTGAGACGCCCATCCTGGCTCGCTATGTGCGCATCCTGCCTGTAGCCTGGCACAACCGCATCGCCCTGCGCCTGGAGCTGCTGGGCTGTTAGTGGCCACCTGCCACCCCCAGGTCTTCCTGCTTTCCATGGGCCCGCTGCCTCTTGGCTTCTCAGCCCCTTTAAATCACCATAGGGCTGGGGACTGGGGAAGGGGAGGGTGTTCAGAGGCAGCACCACCACACAGTCACCCCTCCCTCCCTCTTTCCCACCCTCCACCTCTCACGGGCCCTGCCCCAGCCCCTAAGCCCCGTCCCCTAACCCCCAGTCCTCACTGTCCTGTTTTCTTAGGCACTGAGGGATCTGAGTAGGTCTGGGATGGACAGGAAAGGGCAAAGTAGGGCGTGTGGTTTCCCTGCCCCTGTCCGGACCGCCGATCCCAGGTGCGTGTGTCTCTGTCTCTCCTAGCCCCTCTCTCACACATCACATTCCCATGGTGGCCTCAAGAAAGGCCCGGAAGCGCCAGGCTGGAGATAACAGCCTCTTGCCCGTCGGCCCTGCGTCGGCCCTGGGGTACCATGTGGCCACAACTGCTGTGGCCCCCTGTCCCCAAGACACTTCCCCTTGTCTCCCTGGTTGCCTCTCTTGCCCCTTGTCCTGAAGCCCAGCGACACAGAAGGGGGTGGGGCGGGTCTATGGGGAGAAAGGGAGCGAGGTCAGAGGAGGGCATGGGTTGGCAGGGTGGGCGTTTGGGGCCCTCTATGCTGGCTTTTCACCCCAGAGGACACAGGCAGCTTCCAAAATATATTTATCTTCTTCACGGGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140545-MFGE8:NM_001114614:6
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.057
Domain overlap (PFAM):

C1:
PF0075420=F5_F8_type_C=PU(32.1=72.6)
A:
NA
C2:
PF0075420=F5_F8_type_C=PD(0.1=0.0),PF0075420=F5_F8_type_C=WD(100=89.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development