Special

HsaINT0000030 @ hg38

Intron Retention

Gene
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:HGNC:7]
Coordinates
chr12:9095539-9098756:-
Coord C1 exon
chr12:9098607-9098756
Coord A exon
chr12:9095701-9098606
Coord C2 exon
chr12:9095539-9095700
Length
2906 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
3' ss Seq
TGTCTTTCGTATTTGTACAGGTT
3' ss Score
8.36
Exon sequences
Seq C1 exon
GTGGATTTGAGCTTCAGCCCATCACAAAGTCTCCCAGCCTCACACGCCCACCTGCGAGTCACAGCGGCTCCTCAGTCCGTCTGCGCCCTCCGTGCTGTGGACCAAAGCGTGCTGCTCATGAAGCCTGATGCTGAGCTCTCGGCGTCCTCG
Seq A exon
GTGAGTTCCTGGCAGCCTCAGGAATCAAGAAGGGCCGTGCCAGGGGCTCAGAGCAAGGAAAAATGACTGGATAAGTAGGATAAGATCAATTAAAATTATATTTATCTAGGAATTAATTGCTTTGAGCTCTCTTGTGGGCTTTCATTGGTAAGGAATTATATATATATATATATATAACTACTCACTTCTGCAGTTAAAAAAATAAACAAAATACAATATATTGAATCAAATAAAAGAATTTTTAAAAGGACAAAATGTGATGAAAATTAACAACCAAAAAAGGACTCGTTATTCAGACACGTTAAGCTTCTTGCTCAAGAGCACATAGCAATACAAATTCAAATCTTCTGATTGTGTCAGGACATCCGTATATGCAAGGCTGGAGAGAATACAGAGCAGATTGTGAAAAGTGCTATATGAGAAGTGCAGTTATGCAAAATAAAAGAAAGGATTAACTGAGCAACCGGGGAAGCCGTTCGAAAATTATATATTTAAAATGTAAAAAGACCATACAGTACCCAAAGTCCTTAAAATCCCAGAGCTCCATGCAACCAGTAATAGGAGTTGTCAAACTAGTTTCAACATTTCAAAAAGCCTAACAAAAGTGATACATATACCTGCACTGAGGCTATACAGGCTAAATGAAATATCAGATTTCCGTTTTTATAAGAATTATGGCTGGGCCTGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCCAAGGCAGGCAGATAACTTGAGATCAGGAGTTTGAGACCAGTCTGGCCAATATAATGAAACCCCGTATCTACTAAAAATACAAAAATTAGTCAGACGTGGTGGCGGGCGCCTGTCATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATAGAGCAAGACTTGGTGTCAAAAAAAAAAAAAAAAAAAGAATTACATCAGTTGAAATAATTGCTGTCCCAAGCTACACATAATTTCTGAGGGAACATATGTATTATCTCTGAGGAACAAAACTTAGGGAAATTGAACTACTATATAATTGACATTGATAACTGAACTCTTTGAAAATATGGAGCTAATAGAAGAAATACCAAAAGGATATGCTGAATTGGAACAACAAAAACTAGTTAATAGCATGTACTAATAGTAGTTTGCTCACATCTTCAAATTTTTAATATGAGACCAATTGTAATAACCTCTTACTGAAGCTTTTTCTACTACCATAATTTAACAAAGAGAAATTTATATTTTTATTTTCCTGAAATAGAAACTTATAAAAAAATGTTTCTTACTTGTTTGTCCTTCTAATGGGATTTTAACTGAAAATATTAGAATACTTCTAAAGGAAGCATCAAGTACATTTCAACAGTAGGATCTCAAGAGGATATGTGGGAAAATAATATACATGTTTTATACTTTTATAATATAATTTTATAATTCTCAAAGAATTTTTCAAATTATAACAACCCTGATGGGTAGATAAGGCAGACAGTCCTATTTATTAATAATAAAGCAGAAGCTTTCAGGGATTTAGTAGTAGACCTGAGTTAAAACACCAACTCTTCTCAAGCTTTGATTAGTGTCTTACCAATGAAACACTTTGCTGCTACTAGTGTAGGTCATTCATTCAACACATTTATTTAATGCCCACTGTGTTCTAGGTATTATACTAAGTGCTAGTAGAGATCAAGCAGTGAGCTACTGGAAAGATAAAAATGTATGTCTCATGGAACTTACATTGTCTGTCCCATAGATGAGACAGACAATAATTATGCAATATGCCACAATAAAAGCAGGGAGAGGAAATGAGAAATGTTAAGATACTTTGAGAAAGTGTCTAATTTCATCACACCACTCACTTTGCTCATCTGTTCTTGTCAATCAGTTTTAAACTCCTACGAATATAATGCAATGTAACTATCACAATTTTTATGTCTGTCTTACTTCTCACCTTCAAATGGACTTGAAAGCATCATGCCTAGAATTTTACGGTTAAAGTTGTATGTATTATATGAAGATCTGGAGCATTTTGTTTCCACTAATAATACCTAAGAAAATGCCATCGTGTCCTGTGGAGAGAGGATATTCCTATTCGTGTGCCTGTTTAGAACATGCACCCATTAACTTTGCTATATACTGAGTCAGTTGCTCACCACAAGATAAGCACAAAACTATCATTTCCTTCTATCATCTCAAAGCTTTGTGCAATGTCACAAATACAGCAGACCTCGATTTTTCAATTAATAAAGTTTTATTTCATTCCAGTGTTGAGTCTAGTGGTGGCCTCTGAACTGTGTAACGAAGTAGTACTTAGTACTTAGATGAGTACTTAGATGGAGTGTTTGGTTTTTCCTAAAATTGTTAAACATCTTCAAAATGAAAACACTGTGTCAAGAAAATGATCCATACCCTCTATAAATCATCAAAGCAATGAGAGCGCTCAAAGAAAGACGGATGTTCATTATTCCTGTTCTTTTCTCCTTGAACTTAAAAAATGTCACAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCGGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCACAAATAAGTTTGCCTTTTTGTCTTTCGTATTTGTACAG
Seq C2 exon
GTTTACAACCTGCTACCAGAAAAGGACCTCACTGGCTTCCCTGGGCCTTTGAATGACCAGGACAATGAAGACTGCATCAATCGTCATAATGTCTATATTAATGGAATCACATATACTCCAGTATCAAGTACAAATGAAAAGGATATGTACAGCTTCCTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899:ENST00000318602:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.020 A=NA C2=0.144
Domain overlap (PFAM):

C1:
PF077039=A2M_N_2=PD(26.2=78.0)
A:
NA
C2:
PF077039=A2M_N_2=PD(21.7=83.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development