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2024-04-20 15:03:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_152631 2122 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens family with sequence similarity 47, member B (FAM47B),
mRNA.
ACCESSION NM_152631
VERSION NM_152631.2 GI:296040516
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 2122)
AUTHORS Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
Willey,D.L., Williams,G., Williams,L., Williamson,A.,
Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
Bentley,D.R.
TITLE The DNA sequence of the human X chromosome
JOURNAL Nature 434 (7031), 325-337 (2005)
PUBMED 15772651
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BC035026.2, AL043092.2 and AL043093.3.
This sequence is a reference standard in the RefSeqGene project.
On May 14, 2010 this sequence version replaced gi:22749288.
##Evidence-Data-START##
Transcript is intronless :: BC035026.2, AK093101.1 [ECO:0000345]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-641 BC035026.2 1-641
642-1186 AL043092.2 73-617
1187-1996 BC035026.2 1187-1996
1997-2122 AL043093.3 37-162 c
FEATURES Location/Qualifiers
source 1..2122
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.1"
gene 1..2122
/gene="FAM47B"
/note="family with sequence similarity 47, member B"
/db_xref="GeneID:170062"
/db_xref="HGNC:26659"
exon 1..2122
/gene="FAM47B"
/inference="alignment:Splign:1.39.8"
variation 20
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:367704127"
variation 29
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:371399704"
CDS 37..1974
/gene="FAM47B"
/codon_start=1
/product="protein FAM47B"
/protein_id="NP_689844.2"
/db_xref="GI:296040517"
/db_xref="CCDS:CCDS14236.1"
/db_xref="GeneID:170062"
/db_xref="HGNC:26659"
/translation="
MGDRRPQDRPRSQGMDSKPWYCDKPPSKYFAKRKHRRLRFPPVDTQNWVFVTEGMDDFRYACQSPEDTLVCRRDEFLLPKISLRGPQADRKSRKKKLLKKAALFSELSPVQPARKAFVEEVEAQLMTKHPLAMYPNLGKDMPPDLLLQVLKQLDPERKLEDAWARCEAREKTTEVPTESGKYPCGESCPRPPETPVSRLRPQLPKTPVSSRRPEPPKTRVSSLRPEPPKTRVSSLHPEPPETRASHLRVDPPETGVSHLCPEPPKTLVSSVHPEPPDTGASHLCPEPPETRVSHLHPEPPETGVSHLRPEPSKTQVSSLCPEPPEAGVSHLCLEPPNTHRVSSFLLQVLKLDSEKKLEDARARCEGQEMTTEELTKPGKYHFWESCPRPFESRMPHLRLVLPITRRMASLCLKPPKTRRVSSLCPEPTKTGASHLKELFQEDTPSTMECVSDSLQRRHTSRKLRDFKWAGDLGVNEESISSLFDFTPECRTTDQDQKIKKANECASRLMYGMELDDMDEVEFLRIKYWDRRRRAAPHSYSAQRGRIRYGPWYFEPKLGKKLRSDEPLIDPKPVLEKPDEPDILDGLYGPIAFKDFILSKGYRMPGVIEKLFAKKGWTYDSVKTPIQRAVQVYKYKEDVTDASKED
"
misc_feature <535..>1008
/gene="FAM47B"
/note="104 kDa microneme/rhoptry antigen; Provisional;
Region: PTZ00449"
/db_xref="CDD:185628"
variation 47
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:148435716"
variation 89
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:376051927"
variation 90
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:142579345"
variation 93
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:189542319"
variation 133
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:61730913"
variation 133
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:368344355"
variation 138
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372462849"
variation 192
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:79825675"
variation 217
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:374173252"
variation 218
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:61730914"
variation 234
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139593378"
variation 254
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:185208351"
variation 289
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:189661576"
variation 299
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:368029767"
variation 305
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:4999835"
variation 325
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:371703573"
variation 339
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:143433018"
variation 345
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:4999834"
variation 351
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:199666967"
variation 352
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:4999833"
variation 365
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:4999832"
variation 377
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:146758510"
variation 384
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:140472896"
variation 394
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:41305183"
variation 427
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:200255995"
variation 452
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:112122426"
variation 502
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:368902203"
variation 511
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:372317894"
variation 521
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:375492603"
variation 556
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:369737472"
variation 567
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149160457"
variation 568
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:373162009"
variation 580
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:147688579"
variation 642
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:17855582"
variation 654
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:148350440"
variation 667
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:376641517"
variation 668
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:201180650"
variation 683
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:140552662"
variation 725
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:200166679"
variation 780
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:369604412"
variation 802
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:74580518"
variation 806
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:138560218"
variation 876
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372840274"
variation 891
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:377063124"
variation 900
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:142684131"
variation 910
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200459858"
variation 926
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:370213556"
variation 935
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:374735503"
variation 951
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:377737946"
variation 959
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:111279132"
variation 1039
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:371133015"
variation 1054
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375171840"
variation 1073
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:368347055"
variation 1124
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:137944304"
variation 1150
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139711914"
variation 1165
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:372229852"
variation 1196
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:201715948"
variation 1198
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:143952389"
variation 1199
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:202142258"
variation 1249
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:201369572"
variation 1274
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:148652922"
variation 1288
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:143391263"
variation 1291
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:112769272"
variation 1292
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:146264202"
variation 1332
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200405744"
variation 1349
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149776639"
variation 1370
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:186976890"
variation 1377
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139388040"
variation 1405
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:144167325"
variation 1416
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:191392189"
variation 1427
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:151033833"
variation 1440
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:367947257"
variation 1450
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:371374386"
variation 1493
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:370674369"
variation 1513
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:200894247"
variation 1515
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:374661525"
variation 1523
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:112897595"
variation 1539
/gene="FAM47B"
/replace="a"
/replace="t"
/db_xref="dbSNP:369853205"
variation 1542
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149786472"
variation 1558
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:145766767"
variation 1585
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:199992118"
variation 1586
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:112424097"
variation 1606
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:200918267"
variation 1643
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:372291018"
variation 1656
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:141716197"
variation 1683
/gene="FAM47B"
/replace="a"
/replace="t"
/db_xref="dbSNP:10126846"
variation 1685
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:199682461"
variation 1700
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:201510485"
variation 1702
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:373424093"
variation 1717
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:6632130"
variation 1729
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:201802516"
variation 1797
/gene="FAM47B"
/replace="c"
/replace="t"
/db_xref="dbSNP:147094583"
variation 1829
/gene="FAM47B"
/replace="g"
/replace="t"
/db_xref="dbSNP:373891247"
variation 1891
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:377583305"
variation 1899
/gene="FAM47B"
/replace="a"
/replace="t"
/db_xref="dbSNP:147727559"
variation 1900
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:142624529"
variation 1909
/gene="FAM47B"
/replace="a"
/replace="t"
/db_xref="dbSNP:189726016"
variation 1927
/gene="FAM47B"
/replace="a"
/replace="g"
/db_xref="dbSNP:146915956"
variation 1964
/gene="FAM47B"
/replace="a"
/replace="t"
/db_xref="dbSNP:137863372"
variation 1997
/gene="FAM47B"
/replace="a"
/replace="c"
/db_xref="dbSNP:6632131"
variation 2020
/gene="FAM47B"
/replace="c"
/replace="g"
/db_xref="dbSNP:373268000"
ORIGIN
agaagctggagaggtggcacaacagagagggccaccatgggggaccggaggccacaggaccggccaaggtcccaaggcatggactccaagccctggtactgtgacaaaccgccttccaagtacttcgcgaagcgcaagcacaggcgcctgaggttcccgcctgtggacacccagaactgggtatttgtgacggagggcatggacgacttccgctacgcctgtcagtctcctgaagatacgcttgtttgtcgccgtgacgagtttttactccccaaaatatctctcagaggtccccaagctgaccgcaaaagcaggaagaaaaagctgctcaagaaagcggccctattttccgagctctcgccagtacagccagcacggaaggcgttcgtagaggaagtggaagcccagctgatgaccaagcatcccttggccatgtaccccaatctgggaaaagatatgcctccagatctcctactacaggtgctgaaacagctggatcccgagaggaagctggaggacgcttgggctcgttgtgaggcccgggagaagacaaccgaggtacccaccgagtctggtaaatatccctgtggggaatcctgcccgcggcctcccgagactccggtgtcccgtctccgtcctcagcttcccaagactccggtgtccagtcgccgcccagagcctcccaagactcgggtgtccagtctccgcccagagcctcccaagactcgggtgtccagtctccacccggaacctccagagactcgcgcatctcatctccgcgtggatcctcccgagactggagtgtcccatctctgcccagagcctcccaagactctggtgtccagtgtccacccagagcctcctgatactggagcgtcccatctctgcccggagcctcccgagactcgcgtatctcatctccacccggagcctcctgagactggagtgtcccatctccgcccagagccttccaagactcaggtgtccagtctctgcccggagcctcccgaggctggagtgtcccatctctgcctggaacctcccaacactcatcgggtgtccagtttcctactacaggtgctgaaactggattctgagaagaagctggaagacgcacgggctcgttgtgagggccaggagatgacaaccgaggaactcaccaagcctggtaaataccatttttgggaatcctgtccgcggccttttgagagtcggatgccccatctccgcctggtgcttcccataactcgtcgaatggccagtctctgcctgaagcctcccaagactcgtcgggtgtccagtctctgcccggagcctaccaagaccggagcgtcccatctaaaagaactgtttcaggaagatacaccaagcacaatggagtgtgtttctgactctcttcaacgtagacacacatcgagaaaactccgtgacttcaagtgggctggagacctaggagttaatgaagaatccatcagcagtctgtttgactttacccctgagtgcagaacaaccgatcaagaccaaaagattaagaaggcaaacgagtgtgcttcaaggctgatgtacggcatggagctagacgacatggatgaggtcgaattcttacggataaaatactgggacaggagacgccgggcggcaccgcattcttatagtgcacagcgtgggaggataaggtatggaccatggtacttcgagcctaagttggggaaaaagctaagaagtgatgaacctttgattgaccccaagcccgtacttgaaaagcctgatgaacccgacattcttgacggtctttatggaccaattgcctttaaggatttcattctaagcaagggctacagaatgcctggcgtcattgaaaagctgtttgccaagaagggatggacttacgactctgttaagactcctattcaacgtgcagtgcaagtttacaagtacaaagaagacgtcacagatgcatcaaaagaagattagatggttttcaatttactgcttaattgggtatttcttgctctcattctaaacatcaatcagaatttatgatgactggccccgtgaatgtacaactttggcaacatctgtaaattcaatacccaatgcttataaatatgtcttaatgacc
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