HsaEX6063060 @ hg38
Exon Skipping
Gene
ENSG00000136944 | LMX1B
Description
LIM homeobox transcription factor 1 beta [Source:HGNC Symbol;Acc:HGNC:6654]
Coordinates
chr9:126693524-126695982:+
Coord C1 exon
chr9:126693524-126693601
Coord A exon
chr9:126693746-126693812
Coord C2 exon
chr9:126695839-126695982
Length
67 bp
Sequences
Splice sites
3' ss Seq
GAACTGCGCTCTCCCTGCAGATG
3' ss Score
12.35
5' ss Seq
AGGGTGAGC
5' ss Score
7.75
Exon sequences
Seq C1 exon
GTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAG
Seq A exon
ATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGG
Seq C2 exon
AGGTCCTGTCCAGCCGCATGGAGGGCATGATGGCTTCCTACACGCCGCTGGCCCCACCACAGCAGCAGATCGTGGCCATGGAACAGAGCCCCTACGGCAGCAGCGACCCCTTCCAGCAGGGCCTCACGCCGCCCCAAATGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136944-'5-7,'5-6,6-7=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=0.192 A=1.000 C2=0.962
Domain overlap (PFAM):
C1:
PF0004624=Homeobox=FE(43.9=100)
A:
PF0004624=Homeobox=PD(3.5=8.7)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAGACACTGGCAGCTGAGA
R:
CGTAGGGGCTCTGTTCCATGG
Band lengths:
170-237
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains