Special

HsaEX0030380 @ hg19

Exon Skipping

Gene
Description
homeobox D1 [Source:HGNC Symbol;Acc:5132]
Coordinates
chr2:177053307-177055688:+
Coord C1 exon
chr2:177053307-177054181
Coord A exon
chr2:177054277-177054409
Coord C2 exon
chr2:177054536-177055688
Length
133 bp
Sequences
Splice sites
3' ss Seq
TGGTGTCGCTGCCTTTCCAGACA
3' ss Score
7.01
5' ss Seq
CTGGTACAA
5' ss Score
2.41
Exon sequences
Seq C1 exon
CAGCTGTCTGCCCCTGGCCGCCGCCCGACCCTCGCCTTCGCCCCCGGCCGCCCCCGCGCGGCCGTCCGTACCGCCTCCGGCCGCGCCCCAGTACGCGCAGTGCACCCTGGAGGGGGCCTACGAACCTGGTGCCGCACCTGCCGCGGCAGCTGGGGGCGCGGACTACGGCTTCCTGGGGTCCGGGCCGGCGTACGACTTCCCGGGCGTGCTGGGGCGGGCGGCCGACGACGGCGGGTCTCACGTCCACTACGCCACCTCGGCCGTCTTCTCGGGCGGCGGCTCTTTCCTCCTCAGCGGCCAGGTGGATTACGCGGCCTTCGGCGAACCCGGCCCTTTTCCGGCTTGTCTCAAAGCGTCAGCCGACGGCCACCCTGGTGCTTTCCAGACCGCATCCCCGGCCCCAGGCACCTACCCCAAGTCCGTCTCTCCCGCCTCCGGCCTCCCTGCCGCCTTCAGCACGTTCGAGTGGATGAAAGTGAAGAGGAATGCCTCTAAGAAAG
Seq A exon
ACAGCGGTTTGGGTTTTGTGGAGGAGACGCGTTCCCGGGCGAATTCCATGGAGTCTGCCTCGAGTACAGATTCGGAAAATGTGCCAGGCATTGAGAAAATTTCAGGAAGGAGCTCTCCGTGGAACTTCTCCTG
Seq C2 exon
GCAAACTCGCCGAGTATGGGGCCGCTAGCCCCTCCAGCGCGATCCGCACGAATTTCAGCACCAAGCAACTGACAGAACTGGAAAAAGAGTTTCATTTCAATAAGTACTTAACTCGAGCCCGGCGCATCGAGATAGCCAACTGCTTGCACCTGAATGACACGCAAGTCAAAATCTGGTTCCAGAACCGCAGGATGAAACAGAAGAAAAGGGAACGAGAAGGGCTTCTGGCCACGGCCATTCCTGTGGCTCCCCTCCAACTTCCCCTCTCTGGAACAACCCCCACTAAGTTTATCAAGAACCCCGGCAGCCCTTCTCAGTCCCAAGAGCCTTCGTGAGGCCGGTACTTGGGGCCGAAAAACTGTGGCCTGCAGAAGTCCCAGGCGACCCCCATCCCTATCTAGACTTAGGAGCTCAGTTTGGGATGGAGGTGGGAGAACAAAAATGAATAGGGATTTCACTTGGGAAATGAAGTACTTTAGTTGGCTTCCGAGTTCCAGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128645-'2-3,'2-2,3-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.171 A=0.778 C2=0.283
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0004624=Homeobox=WD(100=50.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCACGTTCGAGTGGATGAA
R:
TGTTTCATCCTGCGGTTCTGG
Band lengths:
246-379
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