HsaEX6063086 @ hg38
Exon Skipping
Gene
ENSG00000148356 | LRSAM1
Description
leucine rich repeat and sterile alpha motif containing 1 [Source:HGNC Symbol;Acc:HGNC:25135]
Coordinates
chr9:127497253-127503501:+
Coord C1 exon
chr9:127497253-127497334
Coord A exon
chr9:127501010-127501143
Coord C2 exon
chr9:127502774-127503501
Length
134 bp
Sequences
Splice sites
3' ss Seq
TGTCTGTCTGGTCCCCACAGAGC
3' ss Score
10.69
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTGGGCGTCTCAGAAGCTGGCCTGCAGCACGAGATCCTCCGGAGAGTCCAGGAACTGCTGGATGCAGCCAGGATCCAGCCAG
Seq A exon
AGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAG
Seq C2 exon
GCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148356-'47-63,'47-62,53-63=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=0.556 C2=0.000
Domain overlap (PFAM):
C1:
PF0764712=SAM_2=PD(32.2=67.9)
A:
PF139201=zf-C3HC4_3=PU(23.9=24.4)
C2:
PF139201=zf-C3HC4_3=PD(71.7=78.6)
Main Skipping Isoform:
ENST00000300417fB19170
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGATCCTCCGGAGAGTCCAG
R:
CACAAGGCTGAGCAGGAGC
Band lengths:
255-389
Functional annotations
There are 2 annotated functions for this event
PMID: 15256501
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, two hybrid. ELM ID: ELMI001342; ELM sequence: TPTAPQ; Overlap: FULL
PMID: 15256501
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, two hybrid. ELM ID: ELMI001343; ELM sequence: RPSAPP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains