Special

HsaEX6076334 @ hg19

Exon Skipping

Gene
Description
milk fat globule-EGF factor 8 protein [Source:HGNC Symbol;Acc:7036]
Coordinates
chr15:89449857-89453154:-
Coord C1 exon
chr15:89453023-89453154
Coord A exon
chr15:89450426-89450607
Coord C2 exon
chr15:89449857-89450009
Length
182 bp
Sequences
Splice sites
3' ss Seq
TGCCACCTCCCTTCCCTCAGAAT
3' ss Score
9.87
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
ATATCTGTTCCAAAAACCCCTGCCACAACGGTGGTTTATGCGAGGAGATTTCCCAAGAAGTGCGAGGAGATGTCTTCCCCTCGTACACCTGCACGTGCCTTAAGGGCTACGCGGGCAACCACTGTGAGACGA
Seq A exon
AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCCAACTCACAGATCGCCGCCTCGTCTGTGCGTGTGACCTTCTTGGGTTTGCAGCATTGGGTCCCGGAGCTGGCCCGCCTGAACCGCGCAGGCATGGTCAATGCCTGGACACCCAGCAGCAATGACGATAACCCCTGGATCCAG
Seq C2 exon
GTGAACCTGCTGCGGAGGATGTGGGTAACAGGTGTGGTGACGCAGGGTGCCAGCCGCTTGGCCAGTCATGAGTACCTGAAGGCCTTCAAGGTGGCCTACAGCCTTAATGGACACGAATTCGATTTCATCCATGATGTTAATAAAAAACACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140545-'2-6,'2-5,6-6=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0000822=EGF=WD(100=86.7)
A:
PF0075420=F5_F8_type_C=PU(31.9=72.1)
C2:
PF0075420=F5_F8_type_C=FE(36.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGTTCCAAAAACCCCTGCC
R:
CGTGTCCATTAAGGCTGTAGGC
Band lengths:
244-426
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains