Special

HsaINT0037994 @ hg19

Intron Retention

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75899268-75901476:-
Coord C1 exon
chr6:75901417-75901476
Coord A exon
chr6:75899532-75901416
Coord C2 exon
chr6:75899268-75899531
Length
1885 bp
Sequences
Splice sites
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
3' ss Seq
AGATATCAAATGTATTTCAGAAT
3' ss Score
5.02
Exon sequences
Seq C1 exon
TTCAAACAGGTAGTTCGACAAAGCCAGTGGAGAAGAAACCTGGAAAAACCGAGATACAAA
Seq A exon
GTGAGTGTTTCTCTTACTATTTTTGCTTAGATTCATGGAAGTCATAAATGTAGGATAGAACAGATGTTCCAATTATATACATAGATTGATCTTATTCCTATATTAATTTATATAAGCTTTATCTGGAAGGAGCACAGACAATATAAGAATAATGTATAACTAAGTCATTATAACCTAAGTTCTGACATTCTAGCTAGTTTTTCATTCTATTTACTAGATATTCTTTTCAATGGGAGTGTTTTGAAATTGTGTGTGTCCAACCTTTCCTGCAGGATTTTGGCAATAGGTGAAAACAAAGCACATCTCAGGACTCAACTCATTTCTCAAAGACAAACTGATAGCAGTAGGTGGTACTTAGGAATATATGAGAAATACAGGGCTGGAACATGAGAGGGATGCCCTCAGCTAGTGTTCAAAGTAATACAATTGCCATGAAAATACTTTTCTAAGTCTGTGTGTATGTTATGCTCTTCTCTAGGTTATTTACATGGCCTTAGTTGATGGTAGTTGTAACCTTTTTGAGAGTCTCTGTAACACACCTCTTATAAATTGGTGCATTTGTAATCAGATGAAAGCAATTTTATTTAGTCTAGATCTTGCAGTTATTAGCCTCCTTTTGTCTTATATTGCTTTTCTGACTTATGGGGATAGATCCTTAAGGGGTTTCTTGGACTTCTAATTTTGTCATCTCGTAAAACTTGGATTTATGACCCAGAATGACAATAAAAAGATTATAAACACAAAGGTCTCTTTATCTGGAAGTATCCCCTCCAGATCACTGTTTATCATTATTTCAGATGCTAATATTTTCAACAATTATTATTTATTTTAAATTGAGGTATTATGCCAAGTATTGACTTTTTAATAGGCTTAAATTCACCTATTAAATAGTGTGCAAAACTTATTTAAGCATACAACTTGTATTTATTTGGCTTGCAAAATTTTTCAGCACCCTCTCCTTCTCTTCCTAGCCAAATACTTCTTTTATTACCTATCAGCTGACTGCAAGAACAAAATCATCATCAGAAAATTCACTTGGTATTGCATTACAAATACAGATTTTCATAAAACCAACCTGACCTCCACCATAGAGAGAAGGAAAGATAACATATTCAGTTACAAAAGCTGATCATTGTATTTTGATAATTTCAGGATACCACATGGATTTTTAACTTTTGAATAAAAATAATTGTTTACCCTCTTTGTTCACTAAAAGTAGGTTTTAATTGTCAAATTTAAATATATTGATAATTAGGACTATATATTTTGGCTATTTTGCATAATTTTATGCTTGTTTTTACTTCTATCAGGCTCCCTTAGCCCTCTAGACTAACCCTAATGCAAACTTTAGACAATTATATTGAAAAGTGCAAGAGTATATTAACAAATTAGGTCTTCAACTCAACTGCACTTCCTTGAATGGTACAGCAATTATTTTGTATTTATTTGTTGATAAATACCAAGGAATAAAAACCCTTTGCTTATATTTCTTTTGTATGACTCCTAAATGTTTTATAAAATTTGTACTTGTAAAGAAGAGTGAGGGTATAGTTTATAAAAATGGATAGGTTGATAGCACGAATACTTGGACTTTATGCTCCCGGAGAGCAGATTATAGATCTATTTATCTCTTTTTGTATAATGTCTTATAAAGCAATTTAAAGACATCTAGTTCCATGAATTCATCTTGATAAAGGCATTGAAAATGCTTCTATGTGTTGTTAGTAAAATTGTATATTTCTTTGTGCATGTGGGTGAAGAACAATTGGTGAATATGTTCTAATGAACAGAATGATTTAAGGAGCCAACATTTTTGCAATGTTAACATGTATTGATGAGTTGATTTAATAAAGCATCATTTAAAAAGATATCAAATGTATTTCAG
Seq C2 exon
AATGCTCTGTCAGTGCCTGGACTGATTTGGTTTTCCTCGTGGATGGCTCTTGGAGTGTGGGAAGAAATAATTTCAAGTACATTTTAGACTTCATTGCTGCTCTTGTGTCTGCTTTTGACATTGGGGAAGAGAAGACAAGAGTTGGAGTTGTTCAATACAGCTCTGATACCAGGACTGAATTTAACTTAAATCAGTACTACCAAAGGGATGAACTTCTTGCTGCAATAAAAAAAATTCCATATAAAGGTGGCAACACAATGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-COL12A1:NM_004370:5
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.476 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0009223=VWA=PU(46.2=89.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGGTAGTTCGACAAAGCCA
R:
CTGTCATTGTGTTGCCACCTT
Band lengths:
319-2204
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