Special

HsaEX0072573 @ hg38

Exon Skipping

Gene
Description
zinc finger E-box binding homeobox 2 [Source:HGNC Symbol;Acc:HGNC:14881]
Coordinates
chr2:144396412-144401307:-
Coord C1 exon
chr2:144401199-144401307
Coord A exon
chr2:144398301-144400270
Coord C2 exon
chr2:144396412-144396592
Length
1970 bp
Sequences
Splice sites
3' ss Seq
AATTTTAATTATCATTTTAGGTG
3' ss Score
8.37
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
CACCAAATGCTAACCCAAGGAGCAGGTAATCGCAAGTTCAAATGCACAGAGTGTGGCAAGGCCTTCAAATATAAACACCATCTGAAAGAACACCTGCGAATTCACAGTG
Seq A exon
GTGAAAAACCTTACGAGTGCCCAAACTGCAAGAAACGTTTCTCCCATTCTGGTTCCTACAGTTCGCACATCAGCAGCAAGAAATGTATTGGTTTAATCTCTGTAAATGGCCGAATGAGAAACAATATCAAGACGGGTTCTTCCCCTAATTCTGTTTCTTCTTCTCCTACTAATTCAGCCATTACCCAGTTAAGAAACAAGTTGGAGAATGGAAAACCACTTAGTATGTCTGAACAGACAGGCTTACTTAAAATTAAAACAGAACCACTAGACTTCAATGACTATAAAGTTCTTATGGCTACACACGGGTTTAGTGGCACTAGTCCCTTTATGAATGGTGGGCTTGGAGCCACCAGCCCTTTAGGAGTTCATCCATCTGCTCAGAGTCCAATGCAGCACTTAGGTGTAGGGATGGAAGCCCCTTTACTTGGGTTTCCCACCATGAATAGTAATTTAAGTGAGGTACAAAAGGTTCTACAGATTGTGGACAATACTGTTTCCAGGCAAAAAATGGACTGCAAGGCTGAAGAAATTTCAAAGTTGAAAGGTTATCACATGAAGGATCCATGCTCTCAACCTGAGGAACAAGGAGTTACTTCTCCTAATATTCCGCCTGTCGGTCTTCCGGTAGTGAGTCATAATGGTGCCACTAAAAGTATTATTGACTATACGTTGGAAAAAGTCAATGAAGCCAAAGCTTGCCTCCAGAGCTTGACTACTGACTCAAGGAGACAGATCAGTAATATAAAGAAAGAGAAGCTACGTACTTTAATAGATTTGGTCACTGATGACAAAATGATTGAGAACCACAACATATCCACTCCATTTTCATGCCAGTTCTGTAAAGAAAGTTTTCCTGGCCCCATCCCTTTGCATCAGCATGAACGTTACCTTTGTAAGATGAATGAAGAGATCAAGGCGGTCCTGCAGCCTCATGAAAACATAGTCCCCAACAAAGCCGGAGTTTTTGTTGATAATAAAGCCCTCCTCTTGTCATCTGTACTTTCTGAGAAAGGAATGACAAGCCCCATCAACCCATACAAGGACCACATGTCTGTACTCAAAGCATACTATGCTATGAACATGGAGCCCAACTCCGATGAACTGCTGAAAATTTCCATTGCTGTGGGCCTTCCTCAGGAATTTGTGAAGGAATGGTTTGAACAACGAAAAGTCTACCAGTACTCAAATTCCAGGTCCCCATCCCTGGAAAGAAGCTCCAAGCCGTTAGCTCCCAACAGTAACCCTCCCACAAAAGACTCTTTATTACCCAGGTCTCCTGTAAAACCTATGGACTCCATAACATCACCATCTATAGCAGAACTCCACAACAGTGTTACGAATTGTGATCCTCCTCTCAGGCTAACAAAACCTTCCCATTTTACCAATATTAAACCAGTTGAAAAATTGGACCACTCCAGGAGTAATACTCCTTCTCCCTTAAATCTTTCCTCCACATCTTCTAAAAACTCCCACAGTAGTTCATACACTCCAAACAGCTTCTCTTCTGAGGAGCTCCAGGCTGAGCCTTTAGACTTGTCATTACCAAAACAAATGAAAGAACCCAAAAGTATTATAGCCACAAAGAACAAAACAAAAGCTAGTAGCATCAGTTTAGATCATAACAGTGTTTCTTCCTCATCTGAAAACTCAGATGAGCCTCTGAACTTGACTTTTATCAAGAAGGAATTTTCAAATTCAAATAATCTGGACAACAAAAGCACTAACCCAGTGTTCAGCATGAACCCATTTAGTGCCAAACCTTTATACACAGCTCTTCCACCTCAAAGCGCATTTCCCCCTGCTACTTTCATGCCACCAGTCCAGACCAGTATTCCTGGGCTACGACCATACCCAGGACTGGATCAGATGAGCTTCCTACCACATATGGCCTACACCTACCCAACTGGAGCAGCTACTTTTGCTGATATGCAGCAAAGGAGAAAGTACCAGCGGAAACAAGGATTTCAG
Seq C2 exon
GGAGAATTGCTTGATGGAGCACAAGACTACATGTCAGGCCTAGATGATATGACAGACTCCGACTCCTGTCTGTCTCGCAAAAAGATCAAGAAGACAGAGAGTGGCATGTATGCATGTGACTTATGTGACAAGACATTCCAGAAAAGCAGTTCCCTTCTGCGACATAAATACGAACACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169554_MULTIEX1-2/5=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.197 A=0.468 C2=0.114
Domain overlap (PFAM):

C1:
PF056057=zf-Di19=PD(0.1=0.0),PF134651=zf-H2C2_2=PU(38.5=27.0)
A:
PF134651=zf-H2C2_2=PD(57.7=2.3),PF0004624=Homeobox=WD(100=7.8)
C2:
PF086465=Rep_fac-A_C=PU(85.2=90.2),PF139121=zf-C2H2_6=WD(100=49.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAATGCTAACCCAAGGAGCA
R:
TGTGTGTTCGTATTTATGTCGCA
Band lengths:
287-2257
Functional annotations
There are 3 annotated functions for this event
PMID: 12714599
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI000260; ELM sequence: PLNLS; Overlap: FULL
PMID: 12714599
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI000261; ELM sequence: PLDLS; Overlap: FULL
PMID: 12714599
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI000262; ELM sequence: PLNLT; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development