Special

HsaEX6066789 @ hg19

Exon Skipping

Gene
Description
integrin, beta 7 [Source:HGNC Symbol;Acc:6162]
Coordinates
chr12:53585110-53586322:-
Coord C1 exon
chr12:53586114-53586322
Coord A exon
chr12:53585643-53585803
Coord C2 exon
chr12:53585110-53585420
Length
161 bp
Sequences
Splice sites
3' ss Seq
GTCTGGTTTCTTGTTCACAGAGG
3' ss Score
7.92
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GGACTGTGCAGAGTGTGGGGCCTTCAGGACTGGCCCACTGGCCACCAACTGCAGTACAGCTTGTGCCCATACCAATGTGACCCTGGCCTTGGCCCCTATCTTGGATGATGGCTGGTGCAAAGAGCGGACCCTGGACAACCAGCTGTTCTTCTTCTTGGTGGAGGATGACGCCAGAGGCACGGTCGTGCTCAGAGTGAGACCCCAAGAAA
Seq A exon
AGGGAGCAGACCACACGCAGGCCATTGTGCTGGGCTGCGTAGGGGGCATCGTGGCAGTGGGGCTGGGGCTGGTCCTGGCTTACCGGCTCTCGGTGGAAATCTATGACCGCCGGGAATACAGTCGCTTTGAGAAGGAGCAGCAACAACTCAACTGGAAGCAG
Seq C2 exon
GACAGTAATCCTCTCTACAAAAGTGCCATCACGACCACCATCAATCCTCGCTTTCAAGAGGCAGACAGTCCCACTCTCTGAAGGAGGGAGGGACACTTACCCAAGGCTCTTCTCCTTGGAGGACAGTGGGAACTGGAGGGTGAGAGGAAGGGTGGGTCTGTAAGACCTTGGTAGGGGACTAATTCACTGGCGAGGTGCGGCCACCACCCTACTTCATTTTCAGAGTGACACCCAAGAGGGCTGCTTCCCATGCCTGCAACCTTGCATCCATCTGGGCTACCCCACCCAAGTATACAATAAAGTCTTACCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139626-'15-18,'15-17,16-18=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=0.019 A=0.000 C2=0.115
Domain overlap (PFAM):

C1:
PF079657=Integrin_B_tail=PU(88.1=98.1)
A:
PF079657=Integrin_B_tail=PD(8.5=9.3),PF0268716=FtsX=PU(90.7=90.7),PF087256=Integrin_b_cyt=PU(92.6=46.3)
C2:
PF087256=Integrin_b_cyt=PD(42.6=74.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTTGGTGGAGGATGACGC
R:
TCGCCAGTGAATTAGTCCCCT
Band lengths:
252-413
Functional annotations
There are 1 annotated functions for this event
PMID: 12606711
This event
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, surface plasmon resonance. ELM ID: ELMI001554; ELM sequence: QDSNPLYK; Overlap: PARTIAL_RIGHT


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains