MartView REGION: r Limit to (uncheck for entire genome): Chromosome name; pi From |Base pair jj |1 f~z\ To|Base pair P3 □ Limit to ENCODE region Type: Random Picks Chr6:108310274-108810273bp *] Entries in an ENCODE region s Only C Excluded ' JDisease Genes Only Excluded r Limit to genes with these IDs: (Paste ID list, or upload file) (NB) AFFY probe IDs should no longer contain the chip name prefix |AFFY-HG-U133-PLUS-2 ID(s) _*j Transcripts per gene: Entries with a 5' UTR Single r Multiple p Only C Excluded Entries with a 3' UTR s Only r Excluded GENE ONTOLOGY: r Evidence code for mapping: Molecular Function E.g. GO:0008083 or growth factor activity Biological Process E.g. GQ:00UB219or cell death Cellular Component E.g. 60:0005623 or cell 11 C-by curator |GO:0008Q83 I EXPRESSION: r _ . bio:::;mart Summary ► start Focus: • Ensembl Genes Species: Homo sapiens 21111 Genes Tola) ► filter t Disease Genes Only Single transcript(s) per gene .Has 5' UTR: Only .Has 3' UTR: Only 53? Genes pass Filters ► output Wot yet initialised ff eGenetics/SANBI data MartShell ^Jc:\WINNT\System32\cmd.exe MartShell: fin Interactive User Interface to Hart based on Hart Query Language (HQL) type 'help' for a list of available commands, or type 'help command' to get help for a particular command. MartShell:. list datasets all; Ensembl. ensembl_genes_homo_sapiens Ensembl. ensembl_genes_mus_musculus Ensembl. snps_homo_sapiens Ensembl. uega_genes_homo_sapiens HSD.structures Uniprot.proteomes HartShell> using Ensembl. ensembl_genes_homo_sapiens get xref _swissprot_acc where disease_genes only and nonsynonymous_snps only ?» and transitiembrane_domains only and chromosome_name = 2 as ensembl_set; HartShell> MartShell> using Uniprot.proteomes get prot_seq where has splice_uariant only and sprot_list in ensembl set % % ; MEPUPLLLLFSLCShGLULGSEHETRLUhICLFKDVSSUURPUEDHRQUUEUTUGLQLIuLINUDEUNuIUTTNURLKQGDMUDLPRPSCUTLGUPLFSHLCINEQUUDVNLKIiINPDDVGGUKKIHIPSEKIURPDLUL VNNflDGDFAIUKFTKULLQVTGHITlilTPPfllFKSVCEIIUTHFPFDEQNCSHKLGTUTVDGSUUHlNPESDQPDLSNFMESGElilUIKESRGlilKHSUTVSCCPDTPVLDITVHFUHQRLPLVFIUNUIIPCLLFSFLT GLUFVLPTDSGEKMTLSISULLSLTUFLLUIUELIPSTSSflUPLIGKVMLFTMUFUIASIIITUIUINTHHRSPSTHUMPNUURKUFIDTIPNIHFFSTHKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPL IKHPEUKSAIEGIKVIAETMKSDuESNNAAAEUKVUAMUMDHILLGUFMLUCIIGTLAUFAGRLIELNQuG HALLLUSLLAFLSLGSGCHHRICHCSNRUFLCQESKUTEIPSDLPRNAIELRFULTKLRUIQKGAFSGFGDLEKIEISQNDULEUIEADUFSNLPKLHEIRIEKANNLLVINPEAFQNLPNLQVLLISNTGIKHLPD UHKIHSLQKULLDIQDNINIHTIERNSFUGLSFESUILU1LNKNGIQEIHNCAFNGTQLDELNLSDNNNLEELPNDUFHGASGPUILDISRTRIHSLPSVGLENLKKLRARSTVNLKKLPTLEKLUALHEASLTVPSH CCAFANURRQISELHPICNKSILRCIEUDVHTQTRGQRSSLAEDNESSVSRGFDHTVTEFDVDLCNEJUDUTCSPKPDAFNPCEDIHGVNILRULIUFISILAITGNIIULUILTTSQVKLTUPRFLHCNLAFADLCI GI'r'LLLIASUDIHTKSQ'r'HNVAIDlUQTGAGCDAAGFFTUFASELSUVTLTAITLERUHTITHAHQLDCKUQLRHAASUHUHGUIFAFAAALFPIFGISSVHKUSICLPHDIDSPLSQLVUHSLLULNULAFUUICGC VIHIVLTURNPNIUSSSSDTRIAKRHAHLIFTDFLCHAPISFFAISASLKUPLITUSKAKILLULFHPINSCANPFLVAIFTKNFRRDFFILLSKCGCVEHQAQIVRTETSSTUHNTHPRNGHCSSAPRUTNGSTVI LUPLSHLAQN MAAAGQLCLLVLSAGLLSRLGAAFNLDTREDNUIRKVGDPGSLFGFSLAHHUIQLQPEDKRLLLUGAPRGEALPLQRANRTGGLVSCDITARGPCTRIEFDNDADPTSESKEDQIUHGUTUQSQGPGGKUUTCAHRVEK RQHUNTKQESRDIFGRCVULSQNLRIEDDHDGGDUISFCDGRLRGHEKFGSCQQGUAATFTKDFHVIUFGAPGTVNUIKGIURUEQKNNTFFDMNIFEDGPVEUGGETEHDESLUPUPANSVLGLLFLTSUSVTDPDQF UVKTRPPREQPDTFPDUMHNSVLGFSLDSGKGIUSKDEITFUSGAPRANHSGAUULLKRDHKSAHLLPEHIFDGEGLASSFGVDUAUUDLNKDGUQDIUIGAPQVFDRDGEUGGAUVUVMNQQGRUINNUKPIRLNGT HDSHFGIAUKNIGDINQDGVPDIAUGAPVDDLGKUFIVHGSANGINTKPTQULKGISPVFGVSIAGNMDLDRNSVPDUAUGSLSDSUTIFRSRPUINIQKTITUTPNRIDLRQKTACGAPSGICLQUKSCFEVTANP AGVNPSISIUGTLEAEKERRKSGLSSRUQFRNQGSEPKVTQELTLKRQKQKUCHEETLUILQDNIRDKLRPIPITASUEIQEPSSRRRUNSLPEULPILNSDEPKTAHIDUHFLKEGCGDDNUCNSNLKLEVKFCTRE GNQDKFSVLPIGKGUPELULKDGKDIALEITUTNSPSNPRNPTKDGDDAHEAKLIATFPDTLTVSAVRELRAFPEKQLSCUANQNGSQADCELGNPFKRNSNUTFVLULSTTEUTFDTPDLDINLKLETTSNQDNLA PITAKAKUUIELLLSUSGUAKPSQUVFGGTUUGEQAHKSEDEUGSLIEVEFRUINLGKPLTNLGTATLNIQUIPKEISNGKlilLLVLUKUESKGLEKUTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAE RKVQTLNCSUNUNCUNIRCPLRGLDSKASLILRSRLUlNSTFLEEVSKLNVLDILHRAFIDUTAAAENIRLPNAGTQURUTUFPSKTUAQVSGUPUlilIILUAILAGILHLALLUFILlilKCGFFKRSRVDDSUPRVHAU RIRKEEREIKDEKYIDNLEKKQWITKWNRNESYS HKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCUPDGALRCPGPTAGLTRLSLAVLPUKUIPSQAFRGLNEUIKIEISQIDSLERIEANAFDNLLNLSEILIQNTKNLRVIEPGAFINLPRLK'r'LSICNTGIRK FPDUTKUFSSESNFILEICDNLHITTIPGNAFQGHNNESUTLKLVGNGFEEUQSHAFNGTTLTSLELKENUHLEKHHNGAFRGATGPKTLDISSTKLQALPSVGLESIQRLIATSSVSLKKLPSRETFUNLLEATLT VPSHCCAFRNLPTKEQNFSHSISENFSKQCESTURKUSNKTLVSSHLAESELSGWDVEVGFCLPKTPRCAPEPDAFNPCEDIHGVDFLRULIULINILAIHGNHTULFULLTSRVKLTUPRFLHCNLSFADFCHGLV LLLIASUDSQTKGQVVNHAIDlilQTGSGCSTAGFFTUFASELSUVTLTUITLERlilHTITVAIHLDQKLRLRHAILIHLGGlilLFSSLIAHLPLUGUSNVHKUSICFPHDUETTLSQU'r'ILTILILNUUAFFIICACVIK IVFAURNPELHATNKDTKIAKKHAILIFTDFTCHAPISFFAISAAFKUPLITUTNSKULLULFVPINSCANPFLVAIFTKTFQRDFFLLLSKFGCCKRRAELVRRKDFSAVTSNCKNGFTGSNKPSQSTLKLSTLHC QGTALLDKTRVTEC MALLIHLKTUSELRGRGDRIAKUTFRGQSFVSRULENCEDUADFDETFRUIPUASSIDRNEHLEIQUFNVSKUFSNKLIGTFRMULQKUUEESHUEUTDTLIDDNNAIIKTSLCUEURVQATDGTUGSlilDDGDFLGDE SLQEEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSUFSAMKLGKNRSHKEEPQRPDEPAULEHEDLDHLAIRLGDGLDPDSUSLASUTALTTNUSNKRSKPDIKMEPSAGRPHDVQUSITUIEARQLUGLNHDPU UCUEUGDDKKVTSMKESTNCPVVNEVFUFDFHUSPDUMFDKIIKISUIHSKNLLRSGTLUGSFKHDUGTUVSQPEHQFHHKUAILSDPDDISSGLKGVUKCDUAUUGKGDNIKTPHKANETDEDDIEGNLLLPEGUP PERQUARFVUKIVRAEGLPRHNTSLHANUKKAFIGENKDLUDPVUQUFFAGQKGKTSUQKSSVEPLI1INEQUUFTDLFPPLCKRHKUQIRDSDKUNDUAIGTHFIDLRKISNDGDKGFLPTLGPAI1IUNHVGSTRNVTL LDEHQDLNEGLGEGUSFRARLLLGLAUEIUDTSNPELTSSTEUQUEQATPISESCAGKHEEFFLFGAFLEASMIDRRNGDKPITFEUTIGNVGNEUDGLSRPQRPRPRKEPGDEEEUDLIQNASDDEAGDAGDLASU I |jj|Microsc.ftPo... | 63bin Key abstractions of generic system Mart GENE CENTRAL gene_id(PK) gene_stable_id gene_start gene_chrom_end chromosome gene_display_id description Dataset Attribute Filter BioMart - a distributed architecture XML XML MartShell examples MartShell> using MSD.msd get pdb_id where resolution_less < 1.5 and has_ec_info only; 1931 1941 larb ... MartShell> using MSD.msd get pdb_id where resolution_less < 1.5 and has_ec_info only as q; MartShell> using Ensembl.hsapiens_gene_ensembl get sequence transcript_flanks+1000 where pdb in q; ENST00 000270142.2 ENSG000 00142168.2 strand=forward chr=21 assembly=NCBI34 downstream flanking sequence of transcript only AAACTAAATTAGCTCTGATACTTATTTATATAAACAGCTTCAGTGGAA MartShell examples (cont) MartShell> using Ensembl.hsapiens_gene_ensembl get gene_stable_id, hugo, go_description where chr_name = 3 and 3.band_start = q22.1 and 3.band_end = q22.3 and est.anatomical_site = retina; ENSG00000051382 PIK3CB phosphoinositide 3-kinase complex ENSG00000163914 RHOG-protein coupled photoreceptor activity ...