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Annotation issue - "No information" when there are many annotations #89

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mdozmorov opened this issue Jan 9, 2022 · 1 comment
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@mdozmorov
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mdozmorov commented Jan 9, 2022

Standard CNVpytor procedure:

set Q0_range -1 0.5
set p_range 0 0.001
set p_N 0 0.5
set size_range 50000 inf
set dG_range 100000 inf
set print_filename results_joint.xlsx
set annotate
print joint_calls

generates the Excel file with some annotations that seem missing. I'm sorting CNVs by the largest SIZE and the largest CNV difference. The top largest regions are annotated as "No information" while they do overlap many protein-coding genes. hg38 coordinates of such regions:

chr5:82432001-102132000
chr3:32767001-41890000
chr4:114263001-121361000
chr5:70496001-79783000

image

That's how the annotations are expected to look:

<style> </style>
seqnames start end width SYMBOL
chr5 82432001 102132000 19700000 ADGRV1;ARRDC3;ARRDC3-AS1;ARSK;CAST;CCNH;CETN3;CHD1;COX7C;EDIL3;EDIL3-DT;ELL2;ERAP1;ERAP2;FAM172A;FAM174A;FAM81B;GLRX;GPR150;GUSBP19;HAPLN1;KIAA0825;LINC00461;LINC01338;LINC01339;LINC01340;LINC01554;LINC01846;LINC01949;LINC02058;LINC02059;LINC02060;LINC02113;LINC02144;LINC02161;LINC02234;LINC02488;LIX1;LIX1-AS1;LNPEP;LOC101929380;LOC101929710;LOC102724637;LOC105379051;LOC105379065;LOC105379066;LOC105379078;LOC105379080;LOC105379082;LOC105379087;LOC105379090;LOC105379091;LOC105379100;LOC107986363;LOC107986432;LOC107986433;LOC107986434;LOC645261;LOC731157;LUCAT1;LYSMD3;MBLAC2;MCTP1;MEF2C;MEF2C-AS1;MEF2C-AS2;MIR2277;MIR3660;MIR3977;MIR4280;MIR548P;MIR583;MIR583HG;MIR9-2;NBPF22P;NR2F1;NR2F1-AS1;PCSK1;POLR3G;POU5F2;RASA1;RFESD;RGMB;RGMB-AS1;RHOBTB3;RIOK2;SCARNA18;SLF1;SNORD138;SPATA9;ST8SIA4;TMEM161B;TMEM161B-DT;TMEM167A;TTC37;VCAN;VCAN-AS1;XRCC4
chr17 66800001 71608000 4808000 ABCA10;ABCA5;ABCA6;ABCA8;ABCA9;ABCA9-AS1;AMZ2;ARHGAP27P2;ARSG;BPTF;C17orf58;CACNG1;CACNG4;CACNG5;CASC17;FAM20A;HELZ;HELZ-AS1;KCNJ16;KCNJ2;KCNJ2-AS1;KPNA2;LINC00674;LINC01028;LINC01482;LINC01483;LINC01497;LOC101928045;LOC105371873;LOC105371880;LOC112267896;MAP2K6;MIR4524A;MIR4524B;MIR548AA2;MIR548D2;MIR635;NOL11;PITPNC1;PRKAR1A;PRKCA;PRO1804;PSMD12;SLC16A6;SNORA38B;WIPI1
chr3 32767001 41890000 9123000 ACAA1;ACVR2B;ACVR2B-AS1;APRG1;ARPP21;CCR4;CCR8;CLASP2;CNOT10;CRTAP;CSRNP1;CTDSPL;CTNNB1;CX3CR1;DCLK3;DLEC1;EIF1B;EIF1B-AS1;ENTPD3;ENTPD3-AS1;EPM2AIP1;EXOG;FBXL2;GLB1;GOLGA4;GOLGA4-AS1;GORASP1;ITGA9;ITGA9-AS1;LINC01811;LINC02033;LOC101928263;LOC102724048;LOC102724104;LOC105377029;LOC105377033;LOC105377035;LOC105377043;LOC105377644;LOC107986042;LOC107986075;LRRFIP2;MIR128-2;MIR26A1;MIR6822;MLH1;MOBP;MYD88;MYRIP;OXSR1;PDCD6IP;PDCD6IP-DT;PLCD1;RPL14;RPSA;SCN10A;SCN11A;SCN5A;SLC22A13;SLC22A14;SLC25A38;SNORA6;SNORA62;STAC;SUSD5;TMPPE;TRANK1;TRIM71;TTC21A;UBE2FP1;UBP1;ULK4;VILL;WDR48;XIRP1;XYLB;ZNF619;ZNF620;ZNF621
chr4 1.14E+08 121361000 7098000 C4orf3;CEP170P1;FABP2;GTF2IP12;LINC01061;LINC01365;LINC01378;LINC02262;LINC02263;LINC02264;LINC02502;LOC101929762;LOC105377383;LOC105377397;LOC107986306;LOC729218;MAD2L1;MAD2L1-DT;METTL14;METTL14-DT;MIR1973;MIR577;MYOZ2;NDNF;NDNF-AS1;NDST3;NDST4;PDE5A;PRDM5;PRSS12;QRFPR;SEC24D;SEPTIN7P14;SNHG8;SNORA24;SYNPO2;TNIP3;TRAM1L1;UGT8;USP53
chr5 70496001 79783000 9287000 AGGF1;ANKDD1B;ANKRA2;ANKRD31;AP3B1;ARHGEF28;ARSB;BHMT;BHMT2;BTF3;CARTPT;CERT1;CMYA5;CRHBP;DMGDH;ENC1;F2R;F2RL1;F2RL2;FAM169A;FCHO2;FOXD1;GCNT4;GFM2;HEXB;HMGCR;HOMER1;IQGAP2;JMY;LHFPL2;LINC01331;LINC01333;LINC01335;LINC01386;LINC02056;LINC02122;LINC02230;LOC101929109;LOC101929154;LOC101929599;LOC105379026;LOC105379028;LOC105379030;LOC105379042;LOC107986383;LOC340090;LOC441086;MAP1B;MIR4803;MIR4804;MRPS27;NCRUPAR;NSA2;OTP;PDE8B;POC5;POLK;PTCD2;S100Z;SCAMP1;SCAMP1-AS1;SNORA47;SV2C;SV2C-AS1;TBCA;TENT2;TMEM171;TMEM174;TNPO1;UTP15;WDR41;ZBED3;ZBED3-AS1;ZNF366
@suvakov
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suvakov commented Feb 2, 2022

Thank you for reporting. This is consequence of size limit (5000000bp) in API we are using:
https://rest.ensembl.org/overlap/region/human/chr5:82432001-102132000?content-type=application/json;feature=gene;. We are working on solution.

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