Special

HsaEX6023355 @ hg19

Exon Skipping

Gene
Description
homeobox B3 [Source:HGNC Symbol;Acc:5114]
Coordinates
chr17:46626232-46632980:-
Coord C1 exon
chr17:46632893-46632980
Coord A exon
chr17:46629389-46629994
Coord C2 exon
chr17:46626232-46628543
Length
606 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCTCTCGCCTCGCAGGTC
3' ss Score
12.91
5' ss Seq
CAGGTACCA
5' ss Score
7.88
Exon sequences
Seq C1 exon
GAGGGGAGATTTGTCGCCTGCCGCTCGCTCTGGGGCTCGATGTGAATATATATTATGTCTGCCTGTTCTCCCCTCGTCGGTGGCTAAG
Seq A exon
GTCAGCCGCTTGGAACAGACCCCGGAGGAGGGGGGCAGAGAGGGGAGGTGGGGGGGGGGGGTCCGGCGTGTCACGTGACCCCCAGGGTTGCCAATGTCCGGTCCTGAGGGTATCAGGCCTTTCCAAGTTGCCACCCACTGCCCAGGCCTCACCCAGCGATGCAGAAAGCCACCTACTACGACAACGCCGCGGCTGCTCTCTTCGGAGGCTATTCCTCGTACCCTGGCAGCAATGGCTTCGGCTTCGATGTCCCCCCCCAACCCCCATTTCAGGCCGCCACGCACCTGGAGGGCGACTACCAGCGCTCAGCTTGCTCGCTGCAGTCCCTGGGCAACGCTGCCCCACATGCCAAGAGCAAGGAGCTCAACGGCAGCTGCATGAGGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGCTCACCCCCGCCCAGTGCCGCACCTACCAGTGCCACTAGCAACAGCAGTAATGGGGGCGGGCCCAGCAAAAGTGGTCCCCCAAAGTGCGGTCCCGGCACCAACTCCACCCTCACCAAACAGATATTCCCCTGGATGAAAGAGTCGAGGCAAACGTCCAAGCTGAAAAACAACTCCCCCGGCACAG
Seq C2 exon
CAGAGGGCTGTGGTGGCGGCGGCGGTGGCGGCGGCGGCGGAGGCAGTGGTGGCAGCGGGGGCGGTGGCGGCGGCGGCGGGGGAGGGGACAAGAGCCCCCCGGGGTCGGCGGCGTCCAAGCGGGCGCGGACGGCGTACACGAGCGCGCAGCTGGTGGAGCTGGAGAAGGAGTTCCATTTTAACCGCTACCTGTGCCGGCCTCGCCGTGTAGAGATGGCCAACCTGCTGAACCTCAGCGAGCGGCAGATCAAGATCTGGTTCCAGAACCGGCGCATGAAGTACAAGAAGGACCAGAAGGCCAAGGGATTGGCCTCGTCGTCGGGGGGCCCATCTCCAGCCGGCAGCCCCCCGCAGCCCATGCAGTCCACGGCCGGCTTCATGAACGCCTTACACTCCATGACCCCCAGCTACGAGAGCCCGTCCCCACCCGCCTTCGGTAAAGCCCACCAGAATGCCTACGCGCTGCCCTCCAACTACCAGCCCCCTCTCAAAGGCTGCGGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120093-'10-20,'10-15,13-20=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.854 C2=0.853
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0004624=Homeobox=WD(100=20.1),PF132931=DUF4074=WD(100=23.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTCTGCCTGTTCTCCCCTC
R:
CAATCCCTTGGCCTTCTGGTC
Band lengths:
342-948
Functional annotations
There are 1 annotated functions for this event
PMID: 8600458
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000757; ELM sequence: FPWM; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains