HsaINT0000073 @ hg38
Intron Retention
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8855509-8857340:+
Coord C1 exon
chr12:8855509-8855592
Coord A exon
chr12:8855593-8857163
Coord C2 exon
chr12:8857164-8857340
Length
1571 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGC
5' ss Score
8.84
3' ss Seq
TCTCTCCTTTTGGATCCCAGGAG
3' ss Score
7.52
Exon sequences
Seq C1 exon
GAAAGGTGGCATCTGAATCTGTCTCCCTGGAGCTCCCAGTGGACATTGTTCCTGACTCGACCAAGGCTTATGTTACGGTTCTGG
Seq A exon
GTAAGCAGTTAGAGATTCTTGACTCAGAAAGGAAAAGGCGAATGGAGGCTGCAAAGGTGTGGAGTGGGGCGGGACATACGGACCTATCCGGAGAGTGTAACTAATAACAAGTGATGAAGGAAAAAGAGCGTATTTTATATAGGAGGGAAATACAGTGTAGGCAACAGTACAGATGGGATTAGACTTGTACTCTAGTTAAAAATGGAAGAGAGTCAGGGTAGGAAGAAGGTAAGGTCGCTGATGCTTGATTTTAGGTTTAGACAGTCTATAAATTGGGTGAAGGGAAAACAGAATATTTGCAGCAACCATTTTCAAAACTGAGGAATTTGGGTATAGTTTAGGGAAGATACAACCATATTTACAATAGGCAGCACACTTACTGTTTGGGGCAAGGGAGGAAGTGGGTTGAAAAGCATGAACGTAGAAATCATATCTAACCTGTCATTTAATAGCCATGTGACCCTGAACAAGTTAGTGAACAGTTCTGGGCCTTCTTTCCTCTTCTGTAAAACAGTGATAATAACCTACCTCTCAGACTGGTGTAAAGATTAAATGCAATATAAAGTCCCCAGCACAATATCTAGCATGTAGTAGGAGCCCTATGAATGTTAGGCTCTTTCTTTACTCCCTCACCCTCTATTGAGATCCTTTGCAGTCACAGTGTCTCTGTTTTGTCTATTTTATTCGTAAGTCTGACATAGCACTTATCTTATTGTATTAGAGTTCACTGTCTATATCTGTCTTCCACACTGTGTTGGGGGCTCCTGAAGAGGAAGGGCCACATCTTTTTCTTTTGTGTTCCTAGTACAGTTCCTGCAACATAGTTGACATTCAGGACACATTTATAGATTGAATTGAGCTTGTTGGCTACAATGCAGATGTTAATGAGTCACTTATGTCAGGTTCACTGGCTTGGGAAGTATATGAAGGGGTCAGTGACAACTTGGAAAAGAGTGTCAGAACTGTGTTTTAGAGAAACTTGGTGATTTGGAGGGTGAGGAACGTACATGCAGTGGTAGAGGAGCTTAAGAGATTGATCCTAAGTGTTATAAGTTTTGTCACATCACTCATCAGCTCAGTGACATGTCTTCTTAAAAGCCCTGAACTCTCTTAGATAGCTTATGTGCCTCTCCGTGTCCCCTAGCACCTCGTACATATCCAGTATGACATTGTAGTACTGTATTAAAATTGTTTATAATGAATAAAAATTGTAATGTGTTGTAATGGTTTGCTCCTCTGTGAGTTTTTTTGAGGGTAGAGACCGAGTTTGATTTACTGTGGTCTTCCCAGGACACACAGTAGGTACTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTGTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCATACTGCTGGAATTACAGGCGTGAGCCACCACGCCCGGCCCATAGTAGGTACTTATTAAATGATAGCTAATACGTGTTTGTTCAGTGAATGATGATAACTCTTAGAGGGTCCCTTCTTCTCTGTACCCCTACCTTCTCTCTCTCCTTTTGGATCCCAG
Seq C2 exon
GAGACATTATGGGCACAGCCCTGCAGAACCTGGATGGTCTGGTGCAGATGCCCAGTGGCTGTGGCGAGCAGAACATGGTCTTGTTTGCTCCCATCATCTATGTCTTGCAGTACCTGGAGAAGGCAGGGCTGCTGACGGAGGAGATCAGGTCTCGGGCAGTGGGTTTCCTGGAAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535:ENST00000299698:23
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF105694=Thiol-ester_cl=WD(100=51.7),PF076789=A2M_comp=PU(0.4=1.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGCATCTGAATCTGTCTCCC
R:
ATTTCCAGGAAACCCACTGCC
Band lengths:
254-1825
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development