Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | human immunodeficiency virus infectious disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15308739 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | human immunodeficiency virus infectious disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15308739 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7811277 | PMID:8125298 | PMID:10942597 | PMID:11408590 | PMID:11481332 | PMID:11495908 | PMID:12477932 | PMID:14627637 | PMID:15342556 | PMID:15489334 | PMID:15569681 | PMID:16169070 |
PMID:16473633 | PMID:16545962 | PMID:17255364 | PMID:17507647 | PMID:18022941 | PMID:19060906 | PMID:19244346 | PMID:20000738 | PMID:20360680 | PMID:20458337 | PMID:20622010 | PMID:20686666 |
PMID:20717956 | PMID:20877624 | PMID:21248079 | PMID:21255211 | PMID:21319273 | PMID:21832049 | PMID:21873635 | PMID:21976701 | PMID:22561749 | PMID:22613832 | PMID:22939629 | PMID:23376485 |
PMID:23383273 | PMID:23533145 | PMID:23572552 | PMID:24006491 | PMID:24056041 | PMID:24141907 | PMID:24332808 | PMID:24589086 | PMID:24711643 | PMID:25070890 | PMID:25468996 | PMID:25556234 |
PMID:26005850 | PMID:26186194 | PMID:26344197 | PMID:26355680 | PMID:26496610 | PMID:26635365 | PMID:26638075 | PMID:26816005 | PMID:27481517 | PMID:28514442 | PMID:29106825 | PMID:29180619 |
PMID:29509190 | PMID:29845934 | PMID:30194290 | PMID:30575818 | PMID:30639242 | PMID:30659120 | PMID:30661770 | PMID:30981667 | PMID:31204173 | PMID:31536960 | PMID:31586073 | PMID:31871319 |
PMID:32296183 | PMID:32513696 | PMID:32541798 | PMID:32687490 | PMID:32814053 | PMID:32877691 | PMID:33194618 | PMID:33524390 | PMID:33961781 | PMID:34079125 | PMID:34597346 | PMID:35271311 |
PMID:35446349 | PMID:35831314 | PMID:35844135 | PMID:35918402 | PMID:36215168 | PMID:36584595 | PMID:36590901 | PMID:36610398 | PMID:37616343 |
RAB11B (Homo sapiens - human) |
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Rab11b (Mus musculus - house mouse) |
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Rab11b (Rattus norvegicus - Norway rat) |
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Rab11b (Chinchilla lanigera - long-tailed chinchilla) |
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RAB11B (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB11B (Canis lupus familiaris - dog) |
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Rab11b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB11B (Sus scrofa - pig) |
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RAB11B (Chlorocebus sabaeus - green monkey) |
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Rab11b (Heterocephalus glaber - naked mole-rat) |
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Variants in RAB11B
145 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) | single nucleotide variant | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV000520305]|not provided [RCV001052890] | Chr19:8400024 [GRCh38] Chr19:8464908 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 | copy number gain | See cases [RCV000052879] | Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] | Chr19:4039158..9176125 [GRCh38] Chr19:4039156..9286801 [GRCh37] Chr19:3990156..9147801 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] | Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) | single nucleotide variant | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV000523787] | Chr19:8399886 [GRCh38] Chr19:8464770 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_004218.4(RAB11B):c.237-2A>T | single nucleotide variant | not provided [RCV003312429] | Chr19:8402084 [GRCh38] Chr19:8466968 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 | copy number gain | not provided [RCV000684096] | Chr19:3120160..9732820 [GRCh37] Chr19:19p13.3-13.2 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
Single allele | duplication | Autism [RCV000754212] | Chr19:7981357..10019383 [GRCh38] Chr19:19p13.2 |
likely pathogenic |
GRCh37/hg19 19p13.2(chr19:8454870-8455879)x1 | copy number loss | not provided [RCV000740029] | Chr19:8454870..8455879 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.237-179G>C | single nucleotide variant | not provided [RCV001690621] | Chr19:8401907 [GRCh38] Chr19:8466791 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.511+92_511+105dup | duplication | not provided [RCV001707043] | Chr19:8402654..8402655 [GRCh38] Chr19:8467538..8467539 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.357C>A (p.Ile119=) | single nucleotide variant | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV002502912]|not provided [RCV000947910] | Chr19:8402206 [GRCh38] Chr19:8467090 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_004218.4(RAB11B):c.40+6G>T | single nucleotide variant | not provided [RCV000962610] | Chr19:8390462 [GRCh38] Chr19:8455346 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.552C>T (p.Arg184=) | single nucleotide variant | not provided [RCV001648038] | Chr19:8403453 [GRCh38] Chr19:8468337 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.237-178G>A | single nucleotide variant | not provided [RCV001690593] | Chr19:8401908 [GRCh38] Chr19:8466792 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.430+72T>C | single nucleotide variant | not provided [RCV001710149] | Chr19:8402351 [GRCh38] Chr19:8467235 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.258C>T (p.Gly86=) | single nucleotide variant | not provided [RCV000972949] | Chr19:8402107 [GRCh38] Chr19:8466991 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.512-146C>T | single nucleotide variant | not provided [RCV001661164] | Chr19:8403267 [GRCh38] Chr19:8468151 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.*43C>T | single nucleotide variant | not provided [RCV001661190] | Chr19:8403601 [GRCh38] Chr19:8468485 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.511+152T>C | single nucleotide variant | not provided [RCV001595628] | Chr19:8402717 [GRCh38] Chr19:8467601 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.491C>G (p.Ala164Gly) | single nucleotide variant | Inborn genetic diseases [RCV003164739]|Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV002471579] | Chr19:8402545 [GRCh38] Chr19:8467429 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_004218.4(RAB11B):c.511+125T>G | single nucleotide variant | not provided [RCV001656520] | Chr19:8402690 [GRCh38] Chr19:8467574 [GRCh37] Chr19:19p13.2 |
benign |
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3 | copy number gain | not provided [RCV001007030] | Chr19:7657490..8569762 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.41-94G>A | single nucleotide variant | not provided [RCV001694272] | Chr19:8399769 [GRCh38] Chr19:8464653 [GRCh37] Chr19:19p13.2 |
benign |
NR_038237.1(RAB11B-AS1):n.578A>C | single nucleotide variant | not provided [RCV001692709] | Chr19:8390114 [GRCh38] Chr19:8454998 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.583G>A (p.Val195Met) | single nucleotide variant | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV001329826] | Chr19:8403484 [GRCh38] Chr19:8468368 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.12G>A (p.Arg4=) | single nucleotide variant | not provided [RCV001510437] | Chr19:8390428 [GRCh38] Chr19:8455312 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_004218.4(RAB11B):c.237-7C>G | single nucleotide variant | not provided [RCV001449227] | Chr19:8402079 [GRCh38] Chr19:8466963 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.236+141G>A | single nucleotide variant | not provided [RCV001679278] | Chr19:8400199 [GRCh38] Chr19:8465083 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.430+6C>T | single nucleotide variant | Inborn genetic diseases [RCV002561999]|not provided [RCV001477317] | Chr19:8402285 [GRCh38] Chr19:8467169 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.497A>C (p.Lys166Thr) | single nucleotide variant | not provided [RCV001727069] | Chr19:8402551 [GRCh38] Chr19:8467435 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.562G>A (p.Asp188Asn) | single nucleotide variant | not provided [RCV001767212] | Chr19:8403463 [GRCh38] Chr19:8468347 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.41-2A>G | single nucleotide variant | not provided [RCV001797227] | Chr19:8399861 [GRCh38] Chr19:8464745 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.40+6G>C | single nucleotide variant | not provided [RCV001988214] | Chr19:8390462 [GRCh38] Chr19:8455346 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.352G>A (p.Val118Ile) | single nucleotide variant | not provided [RCV001988222] | Chr19:8402201 [GRCh38] Chr19:8467085 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.236+414C>T | single nucleotide variant | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV001837248] | Chr19:8400472 [GRCh38] Chr19:8465356 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.550C>T (p.Arg184Cys) | single nucleotide variant | not provided [RCV002024288] | Chr19:8403451 [GRCh38] Chr19:8468335 [GRCh37] Chr19:19p13.2 |
benign|uncertain significance |
NC_000019.9:g.(?_8455301)_(8464962_?)del | deletion | not provided [RCV002002142] | Chr19:8455301..8464962 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.612G>A (p.Thr204=) | single nucleotide variant | not provided [RCV001890676] | Chr19:8403513 [GRCh38] Chr19:8468397 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NC_000019.9:g.(?_8429206)_(8455360_?)dup | duplication | not provided [RCV002023049] | Chr19:8429206..8455360 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.332A>G (p.Asp111Gly) | single nucleotide variant | not provided [RCV002039552] | Chr19:8402181 [GRCh38] Chr19:8467065 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.572C>T (p.Pro191Leu) | single nucleotide variant | not provided [RCV001882130] | Chr19:8403473 [GRCh38] Chr19:8468357 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.553G>A (p.Ala185Thr) | single nucleotide variant | not provided [RCV001954600] | Chr19:8403454 [GRCh38] Chr19:8468338 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.488A>G (p.Glu163Gly) | single nucleotide variant | not provided [RCV001935809] | Chr19:8402542 [GRCh38] Chr19:8467426 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.418C>T (p.Arg140Cys) | single nucleotide variant | not provided [RCV001917098] | Chr19:8402267 [GRCh38] Chr19:8467151 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.280G>A (p.Ala94Thr) | single nucleotide variant | not provided [RCV001935531] | Chr19:8402129 [GRCh38] Chr19:8467013 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.419G>A (p.Arg140His) | single nucleotide variant | not provided [RCV001936021] | Chr19:8402268 [GRCh38] Chr19:8467152 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_004218.4(RAB11B):c.358A>C (p.Met120Leu) | single nucleotide variant | not provided [RCV001977669] | Chr19:8402207 [GRCh38] Chr19:8467091 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.236+4C>A | single nucleotide variant | not provided [RCV001974487] | Chr19:8400062 [GRCh38] Chr19:8464946 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.616G>A (p.Gly206Arg) | single nucleotide variant | Inborn genetic diseases [RCV002560632]|not provided [RCV001938864] | Chr19:8403517 [GRCh38] Chr19:8468401 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_004218.4(RAB11B):c.511+5C>G | single nucleotide variant | not provided [RCV001996831] | Chr19:8402570 [GRCh38] Chr19:8467454 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.544G>A (p.Ala182Thr) | single nucleotide variant | not provided [RCV002017878] | Chr19:8403445 [GRCh38] Chr19:8468329 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.431-4C>T | single nucleotide variant | not provided [RCV001997890] | Chr19:8402481 [GRCh38] Chr19:8467365 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.634C>A (p.Leu212Met) | single nucleotide variant | not provided [RCV001899127] | Chr19:8403535 [GRCh38] Chr19:8468419 [GRCh37] Chr19:19p13.2 |
benign|uncertain significance |
NM_004218.4(RAB11B):c.15C>G (p.Asp5Glu) | single nucleotide variant | not provided [RCV001875256] | Chr19:8390431 [GRCh38] Chr19:8455315 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.328C>T (p.Arg110Trp) | single nucleotide variant | not provided [RCV001904438] | Chr19:8402177 [GRCh38] Chr19:8467061 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_004218.4(RAB11B):c.573G>A (p.Pro191=) | single nucleotide variant | not provided [RCV002206850] | Chr19:8403474 [GRCh38] Chr19:8468358 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.512-18C>T | single nucleotide variant | not provided [RCV002074505] | Chr19:8403395 [GRCh38] Chr19:8468279 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.621G>A (p.Gln207=) | single nucleotide variant | not provided [RCV002165340] | Chr19:8403522 [GRCh38] Chr19:8468406 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.87G>A (p.Ser29=) | single nucleotide variant | not provided [RCV002209885] | Chr19:8399909 [GRCh38] Chr19:8464793 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.336C>T (p.His112=) | single nucleotide variant | not provided [RCV002109744] | Chr19:8402185 [GRCh38] Chr19:8467069 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.431-11C>A | single nucleotide variant | not provided [RCV002071365] | Chr19:8402474 [GRCh38] Chr19:8467358 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.431-8T>C | single nucleotide variant | not provided [RCV002112586] | Chr19:8402477 [GRCh38] Chr19:8467361 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.249T>C (p.Gly83=) | single nucleotide variant | not provided [RCV002186430] | Chr19:8402098 [GRCh38] Chr19:8466982 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.426C>T (p.Phe142=) | single nucleotide variant | not provided [RCV002205195] | Chr19:8402275 [GRCh38] Chr19:8467159 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.611C>T (p.Thr204Met) | single nucleotide variant | not provided [RCV002106618] | Chr19:8403512 [GRCh38] Chr19:8468396 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.41-6G>A | single nucleotide variant | not provided [RCV002205279] | Chr19:8399857 [GRCh38] Chr19:8464741 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.564C>T (p.Asp188=) | single nucleotide variant | not provided [RCV002104521] | Chr19:8403465 [GRCh38] Chr19:8468349 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.582C>T (p.Asn194=) | single nucleotide variant | not provided [RCV002213422] | Chr19:8403483 [GRCh38] Chr19:8468367 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.598G>A (p.Val200Met) | single nucleotide variant | not provided [RCV002080165] | Chr19:8403499 [GRCh38] Chr19:8468383 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+16C>T | single nucleotide variant | not provided [RCV002153655] | Chr19:8402295 [GRCh38] Chr19:8467179 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.270G>A (p.Val90=) | single nucleotide variant | not provided [RCV002170812] | Chr19:8402119 [GRCh38] Chr19:8467003 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.511+20G>A | single nucleotide variant | not provided [RCV002196939] | Chr19:8402585 [GRCh38] Chr19:8467469 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.511+7G>A | single nucleotide variant | not provided [RCV002174813] | Chr19:8402572 [GRCh38] Chr19:8467456 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.511+10G>A | single nucleotide variant | not provided [RCV002092956] | Chr19:8402575 [GRCh38] Chr19:8467459 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.512-8C>T | single nucleotide variant | not provided [RCV002090366] | Chr19:8403405 [GRCh38] Chr19:8468289 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.351C>T (p.Ile117=) | single nucleotide variant | not provided [RCV002085828] | Chr19:8402200 [GRCh38] Chr19:8467084 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+11G>A | single nucleotide variant | not provided [RCV002189172] | Chr19:8402290 [GRCh38] Chr19:8467174 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.40+13G>T | single nucleotide variant | not provided [RCV002151595] | Chr19:8390469 [GRCh38] Chr19:8455353 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.78C>T (p.Asn26=) | single nucleotide variant | not provided [RCV002116296] | Chr19:8399900 [GRCh38] Chr19:8464784 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.567G>A (p.Glu189=) | single nucleotide variant | not provided [RCV002078986] | Chr19:8403468 [GRCh38] Chr19:8468352 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.465C>T (p.Ala155=) | single nucleotide variant | not provided [RCV002134009] | Chr19:8402519 [GRCh38] Chr19:8467403 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.511+12C>T | single nucleotide variant | not provided [RCV002212182] | Chr19:8402577 [GRCh38] Chr19:8467461 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.11G>A (p.Arg4Gln) | single nucleotide variant | not provided [RCV002136921] | Chr19:8390427 [GRCh38] Chr19:8455311 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.273C>T (p.Tyr91=) | single nucleotide variant | not provided [RCV002121354] | Chr19:8402122 [GRCh38] Chr19:8467006 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.420C>T (p.Arg140=) | single nucleotide variant | not provided [RCV002103667] | Chr19:8402269 [GRCh38] Chr19:8467153 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.234C>T (p.Ser78=) | single nucleotide variant | not provided [RCV002083256] | Chr19:8400056 [GRCh38] Chr19:8464940 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.40+15G>T | single nucleotide variant | not provided [RCV002159677] | Chr19:8390471 [GRCh38] Chr19:8455355 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.165G>A (p.Val55=) | single nucleotide variant | not provided [RCV002199758] | Chr19:8399987 [GRCh38] Chr19:8464871 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.41-15C>T | single nucleotide variant | not provided [RCV002176031] | Chr19:8399848 [GRCh38] Chr19:8464732 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.81G>A (p.Leu27=) | single nucleotide variant | not provided [RCV002176310] | Chr19:8399903 [GRCh38] Chr19:8464787 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.303C>T (p.Asn101=) | single nucleotide variant | not provided [RCV002120733] | Chr19:8402152 [GRCh38] Chr19:8467036 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.159C>T (p.Ile53=) | single nucleotide variant | not provided [RCV002103082] | Chr19:8399981 [GRCh38] Chr19:8464865 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.41-7C>T | single nucleotide variant | not provided [RCV002119006] | Chr19:8399856 [GRCh38] Chr19:8464740 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.525C>T (p.Ile175=) | single nucleotide variant | not provided [RCV002181062] | Chr19:8403426 [GRCh38] Chr19:8468310 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.431-14A>C | single nucleotide variant | not provided [RCV002158092] | Chr19:8402471 [GRCh38] Chr19:8467355 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.236+10G>C | single nucleotide variant | not provided [RCV002202353] | Chr19:8400068 [GRCh38] Chr19:8464952 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.431-14A>G | single nucleotide variant | not provided [RCV002082690] | Chr19:8402471 [GRCh38] Chr19:8467355 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.511+6C>T | single nucleotide variant | not provided [RCV002136779] | Chr19:8402571 [GRCh38] Chr19:8467455 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.40+7C>T | single nucleotide variant | not provided [RCV002155486] | Chr19:8390463 [GRCh38] Chr19:8455347 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.431-11C>T | single nucleotide variant | not provided [RCV002200484] | Chr19:8402474 [GRCh38] Chr19:8467358 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.396G>C (p.Arg132=) | single nucleotide variant | not provided [RCV002217819] | Chr19:8402245 [GRCh38] Chr19:8467129 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.51C>T (p.Ile17=) | single nucleotide variant | not provided [RCV002216556] | Chr19:8399873 [GRCh38] Chr19:8464757 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.82C>T (p.Leu28=) | single nucleotide variant | not provided [RCV002139341] | Chr19:8399904 [GRCh38] Chr19:8464788 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+17G>A | single nucleotide variant | not provided [RCV002143138] | Chr19:8402296 [GRCh38] Chr19:8467180 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+10C>T | single nucleotide variant | not provided [RCV002160154] | Chr19:8402289 [GRCh38] Chr19:8467173 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.408T>G (p.Thr136=) | single nucleotide variant | not provided [RCV002161247] | Chr19:8402257 [GRCh38] Chr19:8467141 [GRCh37] Chr19:19p13.2 |
likely benign |
NC_000019.9:g.(?_7586521)_(8670595_?)dup | duplication | Mucolipidosis type IV [RCV003109714] | Chr19:7586521..8670595 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.236+5G>A | single nucleotide variant | not provided [RCV003109957] | Chr19:8400063 [GRCh38] Chr19:8464947 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.625C>T (p.Pro209Ser) | single nucleotide variant | not provided [RCV003115539] | Chr19:8403526 [GRCh38] Chr19:8468410 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.652C>A (p.Leu218Met) | single nucleotide variant | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV002244138] | Chr19:8403553 [GRCh38] Chr19:8468437 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.425T>A (p.Phe142Tyr) | single nucleotide variant | not provided [RCV002267313] | Chr19:8402274 [GRCh38] Chr19:8467158 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.629A>G (p.Asn210Ser) | single nucleotide variant | not provided [RCV002296552] | Chr19:8403530 [GRCh38] Chr19:8468414 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.545C>T (p.Ala182Val) | single nucleotide variant | not provided [RCV002303140] | Chr19:8403446 [GRCh38] Chr19:8468330 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.471T>G (p.Asp157Glu) | single nucleotide variant | not provided [RCV003076478] | Chr19:8402525 [GRCh38] Chr19:8467409 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.40+4del | deletion | not provided [RCV002756683] | Chr19:8390460 [GRCh38] Chr19:8455344 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.421G>A (p.Ala141Thr) | single nucleotide variant | not provided [RCV002734789] | Chr19:8402270 [GRCh38] Chr19:8467154 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.521G>A (p.Arg174His) | single nucleotide variant | not provided [RCV002614360] | Chr19:8403422 [GRCh38] Chr19:8468306 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.651C>T (p.Asn217=) | single nucleotide variant | not provided [RCV002972253] | Chr19:8403552 [GRCh38] Chr19:8468436 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.477T>C (p.Thr159=) | single nucleotide variant | not provided [RCV002882007] | Chr19:8402531 [GRCh38] Chr19:8467415 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.561C>T (p.His187=) | single nucleotide variant | not provided [RCV002622938] | Chr19:8403462 [GRCh38] Chr19:8468346 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.236+7G>C | single nucleotide variant | not provided [RCV002621720] | Chr19:8400065 [GRCh38] Chr19:8464949 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.481G>A (p.Val161Ile) | single nucleotide variant | not provided [RCV002760387] | Chr19:8402535 [GRCh38] Chr19:8467419 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.40+9G>A | single nucleotide variant | not provided [RCV002867004] | Chr19:8390465 [GRCh38] Chr19:8455349 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.40+15G>A | single nucleotide variant | not provided [RCV002705288] | Chr19:8390471 [GRCh38] Chr19:8455355 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.54G>C (p.Gly18=) | single nucleotide variant | not provided [RCV002948676] | Chr19:8399876 [GRCh38] Chr19:8464760 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.41-11T>C | single nucleotide variant | not provided [RCV002570143] | Chr19:8399852 [GRCh38] Chr19:8464736 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+12del | deletion | not provided [RCV002736345] | Chr19:8402290 [GRCh38] Chr19:8467174 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.63C>T (p.Gly21=) | single nucleotide variant | not provided [RCV002927301] | Chr19:8399885 [GRCh38] Chr19:8464769 [GRCh37] Chr19:19p13.2 |
benign |
NM_004218.4(RAB11B):c.169G>A (p.Gly57Ser) | single nucleotide variant | not provided [RCV002624649] | Chr19:8399991 [GRCh38] Chr19:8464875 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.201C>T (p.Thr67=) | single nucleotide variant | not provided [RCV002957596] | Chr19:8400023 [GRCh38] Chr19:8464907 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.41-8C>T | single nucleotide variant | not provided [RCV002801102] | Chr19:8399855 [GRCh38] Chr19:8464739 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.511+5_511+10del | deletion | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV003138292]|not provided [RCV002574368] | Chr19:8402568..8402573 [GRCh38] Chr19:8467452..8467457 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.569C>A (p.Ser190Tyr) | single nucleotide variant | not provided [RCV002802068] | Chr19:8403470 [GRCh38] Chr19:8468354 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.33A>G (p.Leu11=) | single nucleotide variant | not provided [RCV002574373] | Chr19:8390449 [GRCh38] Chr19:8455333 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+17del | deletion | not provided [RCV003059544] | Chr19:8402296 [GRCh38] Chr19:8467180 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.279C>A (p.Ile93=) | single nucleotide variant | not provided [RCV002574147] | Chr19:8402128 [GRCh38] Chr19:8467012 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.40+10G>A | single nucleotide variant | not provided [RCV002853166] | Chr19:8390466 [GRCh38] Chr19:8455350 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.428C>T (p.Ala143Val) | single nucleotide variant | not provided [RCV002741795] | Chr19:8402277 [GRCh38] Chr19:8467161 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_004218.4(RAB11B):c.525C>G (p.Ile175Met) | single nucleotide variant | not provided [RCV003040434] | Chr19:8403426 [GRCh38] Chr19:8468310 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.304G>C (p.Val102Leu) | single nucleotide variant | not provided [RCV003039746] | Chr19:8402153 [GRCh38] Chr19:8467037 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.339A>G (p.Ala113=) | single nucleotide variant | not provided [RCV003088114] | Chr19:8402188 [GRCh38] Chr19:8467072 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.645C>T (p.Cys215=) | single nucleotide variant | not provided [RCV003044140] | Chr19:8403546 [GRCh38] Chr19:8468430 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.603G>A (p.Pro201=) | single nucleotide variant | not provided [RCV002715170] | Chr19:8403504 [GRCh38] Chr19:8468388 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.132C>T (p.Ile44=) | single nucleotide variant | not provided [RCV002580712] | Chr19:8399954 [GRCh38] Chr19:8464838 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.430+19A>G | single nucleotide variant | not provided [RCV002856325] | Chr19:8402298 [GRCh38] Chr19:8467182 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.110A>C (p.Asn37Thr) | single nucleotide variant | not provided [RCV002943658] | Chr19:8399932 [GRCh38] Chr19:8464816 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.635T>C (p.Leu212Pro) | single nucleotide variant | not provided [RCV002582505] | Chr19:8403536 [GRCh38] Chr19:8468420 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.237-20_237-8del | deletion | not provided [RCV002814850] | Chr19:8402065..8402077 [GRCh38] Chr19:8466949..8466961 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.237-8C>A | single nucleotide variant | not provided [RCV002814851] | Chr19:8402078 [GRCh38] Chr19:8466962 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.236+9C>T | single nucleotide variant | not provided [RCV002582571] | Chr19:8400067 [GRCh38] Chr19:8464951 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.222C>T (p.Arg74=) | single nucleotide variant | not provided [RCV002583264] | Chr19:8400044 [GRCh38] Chr19:8464928 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.453C>T (p.Ile151=) | single nucleotide variant | not provided [RCV002604530] | Chr19:8402507 [GRCh38] Chr19:8467391 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.252del (p.Val85fs) | deletion | not provided [RCV002611053] | Chr19:8402101 [GRCh38] Chr19:8466985 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.41-14G>A | single nucleotide variant | not provided [RCV002609946] | Chr19:8399849 [GRCh38] Chr19:8464733 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.168C>T (p.Asp56=) | single nucleotide variant | not provided [RCV002612183] | Chr19:8399990 [GRCh38] Chr19:8464874 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.512-9C>G | single nucleotide variant | not provided [RCV003073269] | Chr19:8403404 [GRCh38] Chr19:8468288 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.407C>A (p.Thr136Asn) | single nucleotide variant | not provided [RCV003221523] | Chr19:8402256 [GRCh38] Chr19:8467140 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.306G>T (p.Val102=) | single nucleotide variant | not provided [RCV003570796] | Chr19:8402155 [GRCh38] Chr19:8467039 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.541A>T (p.Ile181Phe) | single nucleotide variant | RAB11B-related condition [RCV003400425] | Chr19:8403442 [GRCh38] Chr19:8468326 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.311G>A (p.Arg104His) | single nucleotide variant | not provided [RCV003659762] | Chr19:8402160 [GRCh38] Chr19:8467044 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.588G>A (p.Val196=) | single nucleotide variant | not provided [RCV003879253] | Chr19:8403489 [GRCh38] Chr19:8468373 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.288C>T (p.His96=) | single nucleotide variant | not provided [RCV003572890] | Chr19:8402137 [GRCh38] Chr19:8467021 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_004218.4(RAB11B):c.86C>T (p.Ser29Leu) | single nucleotide variant | not provided [RCV003545204] | Chr19:8399908 [GRCh38] Chr19:8464792 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_004218.4(RAB11B):c.462A>C (p.Ser154=) | single nucleotide variant | not provided [RCV003662530] | Chr19:8402516 [GRCh38] Chr19:8467400 [GRCh37] Chr19:19p13.2 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
WI-15303 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 4 | |||||||||||||||||
Medium | 2438 | 2980 | 1725 | 624 | 1937 | 465 | 4356 | 2190 | 3733 | 419 | 1454 | 1613 | 175 | 1 | 1204 | 2787 | 5 | 2 |
Low | 1 | 11 | 1 | 14 | 1 | 7 | 1 | 2 | 1 | 1 | ||||||||
Below cutoff |
RefSeq Transcripts | NM_004218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC136469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF498947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP367041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP396219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT019535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT019536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX647356 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR536494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX787570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D38516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF560724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X79780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000328024 ⟹ ENSP00000333547 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000594216 ⟹ ENSP00000471148 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000598706 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000600719 ⟹ ENSP00000473042 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000601897 ⟹ ENSP00000472473 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_004218 ⟹ NP_004209 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_004209 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAI10082 | (Get FASTA) | NCBI Sequence Viewer |
AAM21095 | (Get FASTA) | NCBI Sequence Viewer | |
AAV38342 | (Get FASTA) | NCBI Sequence Viewer | |
AAV38343 | (Get FASTA) | NCBI Sequence Viewer | |
ABQ59034 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35831 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59912 | (Get FASTA) | NCBI Sequence Viewer | |
CAA56176 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38733 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46492 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68925 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68926 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68927 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000333547 | ||
ENSP00000333547.5 | |||
ENSP00000471148.1 | |||
ENSP00000472473.1 | |||
ENSP00000473042.1 | |||
GenBank Protein | Q15907 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004209 ⟸ NM_004218 |
- UniProtKB: | B4DMK0 (UniProtKB/Swiss-Prot), B2R7I4 (UniProtKB/Swiss-Prot), A5YM50 (UniProtKB/Swiss-Prot), Q6FI42 (UniProtKB/Swiss-Prot), Q6FHR0 (UniProtKB/Swiss-Prot), Q5U0I1 (UniProtKB/Swiss-Prot), Q2YDT2 (UniProtKB/Swiss-Prot), D6W671 (UniProtKB/Swiss-Prot), Q8NI07 (UniProtKB/Swiss-Prot), Q15907 (UniProtKB/Swiss-Prot), B4DMN1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000473042 ⟸ ENST00000600719 |
RefSeq Acc Id: | ENSP00000472473 ⟸ ENST00000601897 |
RefSeq Acc Id: | ENSP00000333547 ⟸ ENST00000328024 |
RefSeq Acc Id: | ENSP00000471148 ⟸ ENST00000594216 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q15907-F1-model_v2 | AlphaFold | Q15907 | 1-218 | view protein structure |
RGD ID: | 6852694 | ||||||||
Promoter ID: | EP74159 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_RAB11B | ||||||||
Description: | RAB11B, member RAS oncogene family. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
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RGD ID: | 7238357 | ||||||||
Promoter ID: | EPDNEW_H24925 | ||||||||
Type: | preliminary | ||||||||
Name: | RAB11B_2 | ||||||||
Description: | RAB11B, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H24926 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7238361 | ||||||||
Promoter ID: | EPDNEW_H24926 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB11B_1 | ||||||||
Description: | RAB11B, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H24925 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9761 | AgrOrtholog |
COSMIC | RAB11B | COSMIC |
Ensembl Genes | ENSG00000185236 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000328024 | ENTREZGENE |
ENST00000328024.11 | UniProtKB/Swiss-Prot | |
ENST00000594216.1 | UniProtKB/Swiss-Prot | |
ENST00000600719.5 | UniProtKB/TrEMBL | |
ENST00000601897.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000185236 | GTEx |
HGNC ID | HGNC:9761 | ENTREZGENE |
Human Proteome Map | RAB11B | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9230 | UniProtKB/Swiss-Prot |
NCBI Gene | 9230 | ENTREZGENE |
OMIM | 604198 | OMIM |
PANTHER | DRAB11-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS-RELATED PROTEIN RAB-11A | UniProtKB/TrEMBL | |
RAS-RELATED PROTEIN RAB-11B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ras | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34102 | PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS | UniProtKB/TrEMBL | |
RHO | UniProtKB/TrEMBL | |
SMART | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RHO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A5YM50 | ENTREZGENE |
B2R7I4 | ENTREZGENE | |
B4DMK0 | ENTREZGENE | |
B4DMN1 | ENTREZGENE, UniProtKB/TrEMBL | |
D6W671 | ENTREZGENE | |
M0R2D0_HUMAN | UniProtKB/TrEMBL | |
M0R377_HUMAN | UniProtKB/TrEMBL | |
Q15907 | ENTREZGENE | |
Q2YDT2 | ENTREZGENE | |
Q5U0I1 | ENTREZGENE | |
Q6FHR0 | ENTREZGENE | |
Q6FI42 | ENTREZGENE | |
Q8NI07 | ENTREZGENE | |
RB11B_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A5YM50 | UniProtKB/Swiss-Prot |
B2R7I4 | UniProtKB/Swiss-Prot | |
B4DMK0 | UniProtKB/Swiss-Prot | |
D6W671 | UniProtKB/Swiss-Prot | |
Q2YDT2 | UniProtKB/Swiss-Prot | |
Q5U0I1 | UniProtKB/Swiss-Prot | |
Q6FHR0 | UniProtKB/Swiss-Prot | |
Q6FI42 | UniProtKB/Swiss-Prot | |
Q8NI07 | UniProtKB/Swiss-Prot |