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2024-03-29 21:00:24, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_199002               3261 bp    mRNA    linear   PRI 08-JUN-2013
DEFINITION  Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1
            (ARHGEF1), transcript variant 1, mRNA.
ACCESSION   NM_199002
VERSION     NM_199002.1  GI:39777605
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3261)
  AUTHORS   Hu,Y., Ou,Y., Wu,K., Chen,Y. and Sun,W.
  TITLE     miR-143 inhibits the metastasis of pancreatic cancer and an
            associated signaling pathway
  JOURNAL   Tumour Biol. 33 (6), 1863-1870 (2012)
   PUBMED   23070684
  REMARK    GeneRIF: High GEF1 expression is associated with metastasis of
            pancreatic cancer.
REFERENCE   2  (bases 1 to 3261)
  AUTHORS   Chen,Z., Guo,L., Hadas,J., Gutowski,S., Sprang,S.R. and
            Sternweis,P.C.
  TITLE     Activation of p115-RhoGEF requires direct association of Galpha13
            and the Dbl homology domain
  JOURNAL   J. Biol. Chem. 287 (30), 25490-25500 (2012)
   PUBMED   22661716
  REMARK    GeneRIF: Activation of p115-RhoGEF requires direct association of
            Galpha13 and the Dbl homology domain.
REFERENCE   3  (bases 1 to 3261)
  AUTHORS   Ma,X., Zhao,Y., Daaka,Y. and Nie,Z.
  TITLE     Acute activation of beta2-adrenergic receptor regulates focal
            adhesions through betaArrestin2- and p115RhoGEF protein-mediated
            activation of RhoA
  JOURNAL   J. Biol. Chem. 287 (23), 18925-18936 (2012)
   PUBMED   22500016
  REMARK    GeneRIF: Upon beta(2)AR activation, both betaArrestin2 and
            p115RhoGEF translocate to the plasma membrane, with concomitant
            activation of RhoA and formation of focal adhesions and stress
            fibers.
REFERENCE   4  (bases 1 to 3261)
  AUTHORS   Hartney,J.M., Gustafson,C.E., Bowler,R.P., Pelanda,R. and
            Torres,R.M.
  TITLE     Thromboxane receptor signaling is required for fibronectin-induced
            matrix metalloproteinase 9 production by human and murine
            macrophages and is attenuated by the Arhgef1 molecule
  JOURNAL   J. Biol. Chem. 286 (52), 44521-44531 (2011)
   PUBMED   22086927
  REMARK    GeneRIF: Thromboxane receptor signaling is required for
            fibronectin-induced matrix metalloproteinase 9 production by human
            and murine macrophages and is attenuated by the Arhgef1 molecule.
REFERENCE   5  (bases 1 to 3261)
  AUTHORS   Jaiswal,M., Gremer,L., Dvorsky,R., Haeusler,L.C., Cirstea,I.C.,
            Uhlenbrock,K. and Ahmadian,M.R.
  TITLE     Mechanistic insights into specificity, activity, and regulatory
            elements of the regulator of G-protein signaling (RGS)-containing
            Rho-specific guanine nucleotide exchange factors (GEFs) p115,
            PDZ-RhoGEF (PRG), and leukemia-associated RhoGEF (LARG)
  JOURNAL   J. Biol. Chem. 286 (20), 18202-18212 (2011)
   PUBMED   21454492
  REMARK    GeneRIF: Mechanistic insights into specificity, activity, and
            regulatory elements of the regulator of G-protein signaling
            (RGS)-containing Rho-specific guanine nucleotide exchange factors
            (GEFs) p115, PDZ-RhoGEF (PRG), and leukemia-associated RhoGEF
            (LARG).
REFERENCE   6  (bases 1 to 3261)
  AUTHORS   Azim,A.C., Barkalow,K., Chou,J. and Hartwig,J.H.
  TITLE     Activation of the small GTPases, rac and cdc42, after ligation of
            the platelet PAR-1 receptor
  JOURNAL   Blood 95 (3), 959-964 (2000)
   PUBMED   10648409
REFERENCE   7  (bases 1 to 3261)
  AUTHORS   Hart,M.J., Jiang,X., Kozasa,T., Roscoe,W., Singer,W.D.,
            Gilman,A.G., Sternweis,P.C. and Bollag,G.
  TITLE     Direct stimulation of the guanine nucleotide exchange activity of
            p115 RhoGEF by Galpha13
  JOURNAL   Science 280 (5372), 2112-2114 (1998)
   PUBMED   9641916
REFERENCE   8  (bases 1 to 3261)
  AUTHORS   Kozasa,T., Jiang,X., Hart,M.J., Sternweis,P.M., Singer,W.D.,
            Gilman,A.G., Bollag,G. and Sternweis,P.C.
  TITLE     p115 RhoGEF, a GTPase activating protein for Galpha12 and Galpha13
  JOURNAL   Science 280 (5372), 2109-2111 (1998)
   PUBMED   9641915
REFERENCE   9  (bases 1 to 3261)
  AUTHORS   Aasheim,H.C., Pedeutour,F. and Smeland,E.B.
  TITLE     Characterization, expression and chromosomal localization of a
            human gene homologous to the mouse Lsc oncogene, with strongest
            expression in hematopoetic tissues
  JOURNAL   Oncogene 14 (14), 1747-1752 (1997)
   PUBMED   9135076
REFERENCE   10 (bases 1 to 3261)
  AUTHORS   Hart,M.J., Sharma,S., elMasry,N., Qiu,R.G., McCabe,P., Polakis,P.
            and Bollag,G.
  TITLE     Identification of a novel guanine nucleotide exchange factor for
            the Rho GTPase
  JOURNAL   J. Biol. Chem. 271 (41), 25452-25458 (1996)
   PUBMED   8810315
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ944132.1, BC034013.1 and
            BC011726.2.
            
            Summary: Rho GTPases play a fundamental role in numerous cellular
            processes that are initiated by extracellular stimuli that work
            through G protein coupled receptors. The encoded protein may form
            complex with G proteins and stimulate Rho-dependent signals.
            Multiple alternatively spliced transcript variants have been found
            for this gene, but the full-length nature of some variants has not
            been defined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034013.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                BQ944132.1         89-157
            70-3236             BC034013.1         1-3167
            3237-3261           BC011726.2         3088-3112
FEATURES             Location/Qualifiers
     source          1..3261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.13"
     gene            1..3261
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="Rho guanine nucleotide exchange factor (GEF) 1"
                     /db_xref="GeneID:9138"
                     /db_xref="HGNC:681"
                     /db_xref="HPRD:03511"
                     /db_xref="MIM:601855"
     exon            1..115
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    18..20
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="upstream in-frame stop codon"
     variation       56
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376445961"
     CDS             90..2873
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="isoform 1 is encoded by transcript variant 1; Lsc
                     homolog; 115-kD protein; Rho guanine nucleotide exchange
                     factor 1; p115RhoGEF; 115 kDa guanine nucleotide exchange
                     factor"
                     /codon_start=1
                     /product="rho guanine nucleotide exchange factor 1 isoform
                     1"
                     /protein_id="NP_945353.1"
                     /db_xref="GI:39777606"
                     /db_xref="CCDS:CCDS12590.1"
                     /db_xref="GeneID:9138"
                     /db_xref="HGNC:681"
                     /db_xref="HPRD:03511"
                     /db_xref="MIM:601855"
                     /translation="
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETESPEPGDEGEPGRSGLELEPEEPPGWRELVPPDTLHSLPKSQVKRQEVISELLVTEAAHVRMLRVLHDLFFQPMAECLFFPLEELQNIFPSLDELIEVHSLFLDRLMKRRQESGYLIEEIGDVLLARFDGAEGSWFQKISSRFCSRQSFALEQLKAKQRKDPRFCAFVQEAESRPRCRRLQLKDMIPTEMQRLTKYPLLLQSIGQNTEEPTEREKVELAAECCREILHHVNQAVRDMEDLLRLKDYQRRLDLSHLRQSSDPMLSEFKNLDITKKKLVHEGPLTWRVTKDKAVEVHVLLLDDLLLLLQRQDERLLLKSHSRTLTPTPDGKTMLRPVLRLTSAMTREVATDHKAFYVLFTWDQEAQIYELVAQTVSERKNWCALITETAGSLKVPAPASRPKPRPSPSSTREPLLSSSENGNGGRETSPADARTERILSDLLPFCRPGPEGQLAATALRKVLSLKQLLFPAEEDNGAGPPRDGDGVPGGGPLSPARTQEIQENLLSLEETMKQLEELEEEFCRLRPLLSQLGGNSVPQPGCT
"
     misc_feature    288..866
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Rho guanine nucleotide exchange factor (GEF), p115
                     RhoGEF; Region: RGS_p115RhoGEF; cd08755"
                     /db_xref="CDD:188709"
     misc_feature    order(330..344,612..614,618..629,633..641,648..650)
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="putative G-alpha-13 interaction site; other site"
                     /db_xref="CDD:188709"
     misc_feature    1383..1943
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; Region: RhoGEF; cd00160"
                     /db_xref="CDD:29100"
     misc_feature    order(1401..1403,1413..1415,1713..1715,1797..1802,
                     1809..1814,1818..1823,1830..1835,1842..1847,1854..1856,
                     1929..1931,1941..1943)
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /note="GTPase interaction site [polypeptide binding];
                     other site"
                     /db_xref="CDD:29100"
     variation       91
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201978240"
     exon            116..158
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       147
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150821873"
     variation       151
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183598386"
     variation       157
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370219647"
     exon            159..245
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       195
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139550350"
     variation       206
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2288509"
     variation       233
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:41306984"
     exon            246..359
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       266
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199744295"
     variation       295
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367720737"
     variation       308
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371961260"
     variation       330
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200954009"
     variation       354
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146097065"
     variation       356
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201383072"
     exon            360..458
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       378
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374342194"
     variation       455
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201305646"
     exon            459..501
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       466
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139897494"
     variation       473
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201880696"
     variation       486
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367629635"
     variation       489
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371771035"
     exon            502..748
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       504
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369826806"
     variation       539
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373367437"
     variation       544
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376815607"
     variation       549
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368913647"
     variation       589
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200573860"
     variation       599
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372670738"
     variation       613
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199623203"
     variation       705
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:193119387"
     variation       710
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367971459"
     exon            749..778
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     exon            779..878
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       786
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149720220"
     variation       794
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374531075"
     variation       797
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145590918"
     variation       806
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200476944"
     variation       810
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202012713"
     variation       819
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148901384"
     variation       853
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368940793"
     exon            879..975
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       891
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142729688"
     variation       898
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370981860"
     variation       902
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202000253"
     variation       932
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374051481"
     variation       945
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147557273"
     variation       947
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141980059"
     exon            976..1011
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       994
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145833533"
     exon            1012..1149
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1019
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199574398"
     variation       1020
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372800039"
     variation       1030
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377228645"
     variation       1035
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147318287"
     variation       1036
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200700112"
     variation       1047
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201550936"
     variation       1052
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181351585"
     variation       1069
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373754668"
     variation       1076
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142488956"
     variation       1088
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150244320"
     variation       1141
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371972574"
     exon            1150..1255
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1157
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113064588"
     variation       1158
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200492200"
     variation       1186
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370209568"
     variation       1204
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:138912380"
     variation       1216
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373879693"
     variation       1228
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199751095"
     variation       1235
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199929341"
     variation       1245
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370619761"
     exon            1256..1401
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1258
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2303797"
     variation       1274
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201815694"
     variation       1283
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371689333"
     variation       1288
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202008400"
     variation       1291
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191166480"
     variation       1322
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182862957"
     variation       1338
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201158983"
     variation       1343
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200140005"
     variation       1355
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371778569"
     variation       1362
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376409694"
     exon            1402..1548
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1427
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377396950"
     variation       1430
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149426435"
     variation       1451
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373961323"
     variation       1470
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368172499"
     variation       1484
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371715160"
     variation       1496
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138184809"
     exon            1549..1631
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1560
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372151277"
     variation       1568
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35481465"
     variation       1571
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146077930"
     variation       1575
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375512672"
     variation       1611
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371904102"
     variation       1616
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140077307"
     variation       1630
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375242613"
     exon            1632..1757
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1637
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150767918"
     variation       1640
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375730550"
     variation       1687
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139162951"
     variation       1717
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149949574"
     variation       1720
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369550986"
     variation       1757
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:55795616"
     exon            1758..1872
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1813
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375320551"
     variation       1859
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147645001"
     exon            1873..1973
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1901
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:141918053"
     variation       1907
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201193337"
     variation       1910
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200795172"
     variation       1911
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144202833"
     variation       1916
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61747623"
     variation       1920
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371642301"
     exon            1974..2051
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       1987
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199766882"
     exon            2052..2127
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2053
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:147783681"
     variation       2098
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201743928"
     variation       2099
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148847706"
     exon            2128..2295
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2163
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143516030"
     variation       2186
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:11083640"
     variation       2219
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201201704"
     variation       2283
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201127336"
     exon            2296..2383
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2303
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200018783"
     variation       2313
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140559109"
     variation       2339
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150472038"
     variation       2348
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201928871"
     variation       2371
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138482475"
     variation       2377
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376994500"
     exon            2384..2470
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2393
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:41307033"
     variation       2411
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372665100"
     variation       2417
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:139829972"
     variation       2434
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:113256397"
     variation       2447
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200947112"
     variation       2451
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375701795"
     variation       2462
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1131874"
     variation       2464
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146058052"
     exon            2471..2538
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2504
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376174015"
     variation       2505
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138831877"
     variation       2507
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1131875"
     variation       2509
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199780248"
     variation       2525
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149372116"
     variation       2536
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374563734"
     exon            2539..2625
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2546
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144745694"
     variation       2547
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376841668"
     variation       2592
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369443387"
     exon            2626..2789
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2629
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370160335"
     variation       2640
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:45580632"
     variation       2656
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375950739"
     variation       2679
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148445682"
     variation       2686
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370594565"
     variation       2730
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201989159"
     variation       2731
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368646630"
     variation       2748
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372187004"
     variation       2783
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375584355"
     exon            2790..2890
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       2812
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369952369"
     variation       2843
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376680966"
     variation       2859
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:141738557"
     variation       2880
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372273800"
     variation       2881
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369026490"
     exon            2891..3238
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /inference="alignment:Splign:1.39.8"
     variation       3050
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:192515803"
     variation       3061
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:80083367"
     STS             3088..3216
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /standard_name="WI-15934"
                     /db_xref="UniSTS:175"
     variation       3120
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183053810"
     polyA_site      3233
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_site      3235
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; LBCL2; LSC; P115-RHOGEF; SUB1.5"
ORIGIN      
ggtggactcagggcggctagagcgacgcggcggcaggggtggggagagtgcggagcccgagcgcggaggcttcggttccggtggcggcgatggcttctctttccacctggagcagccctgcagagcccagggagatggaagacttcgcccgaggggcggcctccccaggcccctcccggcctggcctggttcccgtcagcatcatcggggctgaggatgaggattttgagaacgagctggagacaaactcagaagagcaaaacagccagttccagagcctggagcaggtgaagcggcgcccagcccacctcatggccctcctgcagcacgtggccctgcagtttgagccaggacccctgctttgctgtctgcatgccgacatgctgggctcactgggccccaaggaggccaagaaggccttcctggacttctaccacagcttcctggagaagacagcggttctccgggtgccggtccctcccaacgtcgcctttgaacttgaccgcactagggctgacctcatctccgaggatgtccagcggcggttcgtgcaggaggtggtgcaaagccagcaggtagccgtgggccggcagctggaggacttccgttccaagcggctcatgggcatgacgccctgggagcaggagctggcccagctggaggcttgggttgggcgggaccgagccagctacgaggcccgggagcggcacgtggcggagcggctgctcatgcacctggaggagatgcaacataccatctctaccgacgaagaaaagagtgctgccgtggtcaacgccattggcctgtacatgcgccaccttggggtgcggaccaagagtggagacaagaagtcggggaggaacttcttccggaaaaaggtgatggggaaccggcggtcggacgagcctgccaagaccaagaaggggctgagcagcatcctggatgccgcccgctggaaccggggagagccccaggttccagattttcgacacctcaaagcagaggttgatgccgagaagccaggtgctacagaccggaagggaggcgtggggatgccctctcgggaccggaatatcggggctcctgggcaggacacccctggagtctctctgcaccctctgtccctggacagcccagaccgggaaccaggtgctgacgcccccctggagctgggggactcatccccgcagggcccaatgagcctggagtccttggcgcccccagagagtaccgacgagggggccgaaaccgagagccccgagcctggagatgagggggagccggggcggtcgggactggagcttgaaccagaagagcctcccggctggcgggaactcgtccccccagacaccctgcacagcctgcccaagagccaggtgaagcggcaggaggtcatcagcgagctgctggtgacagaggcggcccacgtgcgcatgctgcgggtgctgcacgacctcttcttccagcccatggcagaatgcctgttcttccccttggaggagctgcagaacatcttccccagcctggacgagctcatcgaggtgcattccctgttcctcgatcgcctgatgaagcggaggcaggagagtggctacctcatcgaggagatcggagacgtgctgctggcccggtttgatggtgctgagggctcctggttccagaaaatctcctcccgcttctgcagccgccagtcatttgccttagagcagctcaaagccaagcaacgcaaggaccctcggttctgtgccttcgtgcaggaagctgagagccgcccgcggtgccgccgcctgcagctgaaggacatgatccccacggagatgcagcggctgaccaagtaccccctgctcctgcagagcatcgggcagaacacagaagagcccacagaacgggagaaagtggagctggcagccgagtgctgccgggaaattctacaccacgtcaaccaagccgtgcgtgacatggaggacctgctgaggctcaaggactatcagcggcgcctggacttgtcccaccttcggcagagcagcgaccctatgctgagcgagttcaagaacctggacatcaccaagaagaaattggtccacgagggcccactgacgtggcgggtgactaaggacaaggcagtggaggtgcatgtgctgctgctggacgacctgctgctgctgctccagcgccaggacgagcggctgctgctcaagtcccatagccggacactgacgcccacgcccgatggcaagaccatgctgcggcccgtgctgcggctcacctccgccatgacccgcgaggtggccaccgatcacaaagccttctacgtcctttttacctgggaccaggaggcccagatatacgagctggtggcacagactgtgtcggagcggaaaaactggtgtgctctcatcactgagactgccggatccctgaaagtccctgcccctgcctctcgccctaagccccggcccagcccgagcagcacccgagaacccctcctcagcagctctgagaacggcaatggtggccgagagacgtctccagctgatgcccggaccgagagaatcctcagtgacctcctgcccttctgcagaccaggccccgagggccagctcgctgccacggcccttcggaaagtgctgtccctgaagcagcttctgtttccggcggaggaagacaatggggcggggcctcctcgagatggggatggggtcccagggggcggccccctgagcccagcacggacccaggaaatccaggagaacctgctcagcttggaggagaccatgaagcagctggaggagttggaggaggaattttgccgcctgagacccctcctgtctcagcttggggggaactctgtcccccagcctggctgcacttgaggttcccgcccaggaaggccttttgcaagaaggagaggaatgggggagaggacgtgagggaccacccccacccacacagctgccgcagcatctcacaccccgagggcctgaggagagggagctgtgggccacgcctgggaggggcccagctggggttactggccccgcatgagcctcggccatctctccctcctgccctctgcttgggggactcagggctccattctggagggcaccacggtgacccgggccatctcagtattgcctgtgggggccacccctccacccccacccccaagtgccttcgctctgtttttataccctgaattggaggtttattttttaatatatattatctaagaagaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:9138 -> Molecular function: GO:0005089 [Rho guanyl-nucleotide exchange factor activity] evidence: IEA
            GeneID:9138 -> Molecular function: GO:0005096 [GTPase activator activity] evidence: IEA
            GeneID:9138 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:9138 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IEA
            GeneID:9138 -> Biological process: GO:0007266 [Rho protein signal transduction] evidence: TAS
            GeneID:9138 -> Biological process: GO:0008283 [cell proliferation] evidence: TAS
            GeneID:9138 -> Biological process: GO:0035023 [regulation of Rho protein signal transduction] evidence: IEA
            GeneID:9138 -> Biological process: GO:0038032 [termination of G-protein coupled receptor signaling pathway] evidence: IEA
            GeneID:9138 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
            GeneID:9138 -> Biological process: GO:0050770 [regulation of axonogenesis] evidence: TAS
            GeneID:9138 -> Biological process: GO:0050771 [negative regulation of axonogenesis] evidence: TAS
            GeneID:9138 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:9138 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:9138 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS

by @meso_cacase at DBCLS
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