Special

HsaEX6088044 @ hg19

Exon Skipping

Gene
Description
zinc finger E-box binding homeobox 1 [Source:HGNC Symbol;Acc:11642]
Coordinates
chr10:31803531-31813041:+
Coord C1 exon
chr10:31803531-31803636
Coord A exon
chr10:31809054-31810864
Coord C2 exon
chr10:31812861-31813041
Length
1811 bp
Sequences
Splice sites
3' ss Seq
TTGTTTGTTTGTTTGTTTAGGAG
3' ss Score
8.68
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
AGACATGTGACGCAGTCTGGGTGTAATCGTAAATTCAAATGCACTGAGTGTGGAAAAGCTTTCAAATACAAACATCACCTAAAAGAGCACTTAAGAATTCACAGTG
Seq A exon
GAGAGAAGCCATATGAATGCCCAAACTGCAAGAAACGCTTTTCCCATTCTGGCTCCTATAGCTCACACATAAGCAGTAAGAAATGTATCAGCTTGATACCTGTGAATGGGCGACCAAGAACAGGACTCAAGACATCTCAGTGTTCTTCACCGTCTCTTTCAGCATCACCAGGCAGTCCCACACGACCACAGATACGGCAAAAGATAGAGAATAAACCCCTTCAAGAACAACTTTCTGTTAACCAAATTAAAACTGAACCTGTGGATTATGAATTCAAACCCATAGTGGTTGCTTCAGGAATCAACTGTTCAACCCCTTTACAAAATGGGGTTTTCACTGGTGGTGGCCCATTACAGGCAACCAGTTCTCCTCAGGGCATGGTGCAAGCTGTTGTTCTGCCAACAGTTGGTTTGGTGTCTCCCATAAGTATCAATTTAAGTGATATTCAGAATGTACTTAAAGTGGCGGTAGATGGTAATGTAATAAGGCAAGTGTTGGAGAATAATCAAGCCAATCTTGCATCCAAAGAACAAGAAACAATCAATGCTTCACCCATACAACAAGGTGGCCATTCTGTTATTTCAGCCATCAGTCTTCCTTTGGTTGATCAAGATGGAACAACCAAAATTATCATCAACTACAGTCTTGAGCAGCCTAGCCAACTTCAAGTTGTTCCTCAAAATTTAAAAAAAGAAAATCCAGTCGCTACAAACAGTTGTAAAAGTGAAAAGTTACCAGAAGATCTTACTGTTAAGTCTGAGAAGGACAAAAGCTTTGAAGGGGGGGTGAATGATAGCACTTGTCTTCTGTGTGATGATTGTCCAGGAGATATTAATGCACTTCCAGAATTAAAGCACTATGACCTAAAGCAGCCTACTCAGCCTCCTCCACTCCCTGCAGCAGAAGCTGAGAAGCCTGAGTCCTCTGTTTCATCAGCTACTGGAGATGGCAATTTGTCTCCTAGTCAGCCACCTTTAAAGAACCTCTTGTCTCTCCTAAAAGCATATTATGCTTTGAATGCACAACCAAGTGCAGAAGAGCTCTCAAAAATTGCTGATTCAGTAAACCTACCACTGGATGTAGTAAAAAAGTGGTTTGAAAAGATGCAAGCTGGACAGATTTCAGTGCAGTCTTCTGAACCATCTTCTCCTGAACCAGGCAAAGTAAATATCCCTGCCAAGAACAATGATCAGCCTCAATCTGCAAATGCAAATGAACCCCAGGACAGCACAGTAAATCTACAAAGTCCTTTGAAGATGACTAACTCCCCAGTTTTACCAGTGGGATCAACCACCAATGGTTCCAGAAGTAGTACACCATCCCCATCACCTCTAAACCTTTCCTCATCCAGAAATACACAGGGTTACTTGTACACAGCTGAGGGTGCACAAGAAGAGCCACAAGTAGAACCTCTTGATCTTTCACTACCAAAGCAACAGGGAGAATTATTAGAAAGGTCAACTATCACTAGTGTTTACCAGAACAGTGTTTATTCTGTCCAGGAAGAACCCTTGAACTTGTCTTGCGCAAAAAAGGAGCCACAAAAGGACAGTTGTGTTACAGACTCAGAACCAGTTGTAAATGTAATCCCACCAAGTGCCAACCCCATAAATATCGCTATACCTACAGTCACTGCCCAGTTACCCACAATCGTGGCCATTGCTGACCAGAACAGTGTTCCATGCTTAAGAGCGCTAGCTGCCAATAAGCAAACGATTCTGATTCCCCAGGTGGCATACACCTACTCAACTACGGTCAGCCCTGCAGTCCAAGAACCACCCTTGAAAGTGATCCAGCCAAATGGAAATCAG
Seq C2 exon
GATGAAAGACAAGATACTAGCTCAGAAGGAGTATCAAATGTAGAGGATCAGAATGACTCTGATTCTACACCGCCCAAAAAGAAAATGCGGAAGACAGAAAATGGAATGTATGCTTGTGATTTGTGTGACAAGATATTCCAAAAGAGTAGTTCATTATTGAGACATAAATATGAACACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148516-'19-20,'19-19,22-20=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=0.083 A=0.504 C2=0.623
Domain overlap (PFAM):

C1:
PF061076=DUF951=PD(75.0=85.7),PF0009621=zf-C2H2=WD(100=82.9)
A:
PF134651=zf-H2C2_2=PD(57.7=2.5),PF0004624=Homeobox=WD(100=8.3)
C2:
PF134651=zf-H2C2_2=PU(38.5=16.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGCAGTCTGGGTGTAATCGT
R:
CTACTCTTTTGGAATATCTTGTCACA
Band lengths:
246-2057
Functional annotations
There are 1 annotated functions for this event
PMID: 10567582
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: two hybrid. ELM ID: ELMI000085; ELM sequence: PLDLS; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains