HsaINT0000070 @ hg38
Intron Retention
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8852210-8854249:+
Coord C1 exon
chr12:8852210-8852336
Coord A exon
chr12:8852337-8854127
Coord C2 exon
chr12:8854128-8854249
Length
1791 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
3' ss Seq
TCCCTTCTTCTTTCTCTCAGGTC
3' ss Score
12.26
Exon sequences
Seq C1 exon
GTTCAGACTGACCTGGCTAAATCGCATGAGTACCAGCTAGAATCATGGGCAGATTCTCAGACCTCCAGTTGTCTCTGTGCTGATGACGCAAAAACCCACCACTGGAACATCACAGCTGTCAAATTGG
Seq A exon
GTAAGAGAGGGAAGTGGTAGACGGGCGAGGAAAGCCAGCAGCAGAAGACCAGTGACTGAGCACTCAGTCTTTTCCTCTGCCACATCTGCTTTGCTTCCTCCTCCATTTTCCACTATTTTTCTCCCTCCTAAGGCTGTTATAAGTCAATACACAAACACTCTTTGATAGGTGACCAAACAAATTTGTTCAAACCGGAATATTTTGAGTGTGAAAGGGAGAGCTTTTAATATTTATAGCTGGACAAGGAATACATGGTCATGTAACTAATCAAGGACTTACTATAAGAGTCCCTGGGCCAGGCACTATTCTAACTGCTTTACATATATTAACTCATTAAATTGATTGACTAATTAATTTTTATTTTATTTATTTATTTTTGAGAGGAAGTCTCGCTCTGTTGCGCAGGCTGGAGTGCAGTGGTGCAATCTGTGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCAAGCCTCCCAAGTAGCTAGGATTACAGTCGCGTGCCACCCTACCCGGCTAATTTTTGTACTTTTAGTAGAGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCTGGCCTTTTATTTTTTTTTAGAGAGACAAGATCTTACTCTGTCACCTAAGCTGGAGTACAGTGGTGTGGTCATTGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCTCACCTAGGCCTCCGGAGTAGCTGGGACTATAGGCTCATGCCACCACCATGCCTGGCTAATTCAGTTGGCAGAGAAGCGGTCTTGCTCTGTTGCCCAGGCTGTTCTCAAACTCCTGGGTTCAAGTGATTCTCCCGCCTCACCCTTCCAAAGTACTGGGATTACAAGAATGAGTCACTGCACCTTTAACTTGTTTAATCCTCACCCCCAACCCTATGGGATGTCAGTCACTCATAGATTAAATCCTTGCAACTCAAAGTTTGATTTTCATATGTATGAGTTATCTCATGTTGCTTGACAAATTATTGTAAAACTTAAGTGTCATAAAAGGACAAACATTATCAAACAGATTCTATGGGTCATTAATCTGGGTGCAGCTTAGCTGGGTACCTCTGGCTCAAGGTATCTCATGAGGTTGCAATCAAGCTGTCAGTCAGGACTCTGGTTTCATCTGAAGACTCGACTAGGAGAGGATTGATTTTTCAAGCTCATCCCAAAGTCTCTGATCCTTACAGGCTGCTAGACTGAAGGACACAGTTCTTGACCTCAGCTTTTGGCTAGGGGCCTCACTCAGTATCTCATCACATGAATCTCTCTGCTGGGCTGCCTCATCACACAACAGCTGTCTTCCCCAGAGCAAGCAGTTTGAGAAAAGGGGTGCACCCAAGATGGAAGCTGCAGTCTTTTTTGTAACCTAATCCCAGAAGAGTCATTACTTTCACCCTGTTCTCTTTAACAGAAGCGAGTCACTCAATCCAGCTCACACTCAATGGATGTAAATATCAGGATGCAGGGATCTCTGAGGGCCCTTAGAGGTTACCTACCACACTGGACTAGCCTCTCTGGCATCACCTGGGAGCTTGTTAGAAATGCAGAATATGGGCCCCACCCCAGGTCTATGGCAGCAGAGTTTGCACTGTTGCAAGATCCCCATTAAAGTTTCAGAAATGCTGATCCAAATGGGAATGGACCTCACTGGTACCTCTGGCAATAGGGCTAATGGCTTCCCTTCTTCTTTCTCTCAG
Seq C2 exon
GTCACATTAACTTTACTATTAGTACAAAGATTCTGGACAGCAATGAACCATGTGGGGGCCAGAAGGGGTTTGTTCCCCAAAAGGGCCGAAGTGACACGCTCATCAAGCCAGTTCTCGTCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535:ENST00000299698:20
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=0.024
Domain overlap (PFAM):
C1:
PF0020717=A2M=PD(4.4=9.3)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGACTGACCTGGCTAAATCGC
R:
TTTGACGAGAACTGGCTTGATGA
Band lengths:
246-2037
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