Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | primary ciliary dyskinesia 34 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | primary ciliary dyskinesia 34 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12673577 | PMID:14702039 | PMID:14970903 | PMID:20677014 | PMID:21740329 | PMID:21873635 | PMID:21994455 | PMID:25233908 | PMID:27486783 | PMID:31342671 | PMID:32296183 | PMID:33957083 |
PMID:35166991 |
DNAJB13 (Homo sapiens - human) |
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Dnajb13 (Mus musculus - house mouse) |
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Dnajb13 (Rattus norvegicus - Norway rat) |
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Dnajb13 (Chinchilla lanigera - long-tailed chinchilla) |
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DNAJB13 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DNAJB13 (Canis lupus familiaris - dog) |
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Dnajb13 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DNAJB13 (Sus scrofa - pig) |
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DNAJB13 (Chlorocebus sabaeus - green monkey) |
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Dnajb13 (Heterocephalus glaber - naked mole-rat) |
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Variants in DNAJB13
131 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] | Chr11:71923251..79662025 [GRCh38] Chr11:71634297..79373069 [GRCh37] Chr11:71311945..79050717 [NCBI36] Chr11:11q13.4-14.1 |
pathogenic |
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 | copy number loss | See cases [RCV000052708] | Chr11:71928796..77064521 [GRCh38] Chr11:71639842..76751808 [GRCh37] Chr11:71317490..76453216 [NCBI36] Chr11:11q13.4-13.5 |
pathogenic |
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 | copy number loss | See cases [RCV000052709] | Chr11:71969881..78232895 [GRCh38] Chr11:71680927..77943941 [GRCh37] Chr11:71358575..77621589 [NCBI36] Chr11:11q13.4-14.1 |
pathogenic |
NM_153614.3(DNAJB13):c.225G>A (p.Gly75=) | single nucleotide variant | Malignant melanoma [RCV000069683] | Chr11:73959546 [GRCh38] Chr11:73670591 [GRCh37] Chr11:73348239 [NCBI36] Chr11:11q13.4 |
not provided |
NM_003355.2(UCP2):c.922C>T (p.Pro308Ser) | single nucleotide variant | Malignant melanoma [RCV000069684] | Chr11:73975015 [GRCh38] Chr11:73686060 [GRCh37] Chr11:73363708 [NCBI36] Chr11:11q13.4 |
not provided |
GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3 | copy number gain | See cases [RCV000134027] | Chr11:73574925..74133379 [GRCh38] Chr11:73285970..73844424 [GRCh37] Chr11:72963618..73522072 [NCBI36] Chr11:11q13.4 |
uncertain significance |
GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3 | copy number gain | See cases [RCV000141342] | Chr11:73859172..73977160 [GRCh38] Chr11:73570217..73688205 [GRCh37] Chr11:73247865..73365853 [NCBI36] Chr11:11q13.4 |
uncertain significance |
NM_001267803.1(PAAF1):c.*451_*70114dup | duplication | Preeclampsia [RCV000161633] | Chr11:73927813..73997476 [GRCh38] Chr11:73638858..73708521 [GRCh37] Chr11:11q13.4 |
not provided |
NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg) | single nucleotide variant | Primary ciliary dyskinesia 34 [RCV000239984] | Chr11:73969996 [GRCh38] Chr11:73681041 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_153614.4(DNAJB13):c.68+1G>C | single nucleotide variant | Primary ciliary dyskinesia 34 [RCV000240325] | Chr11:73951138 [GRCh38] Chr11:73662183 [GRCh37] Chr11:11q13.4 |
pathogenic |
GRCh37/hg19 11q13.4(chr11:73444963-73777547)x3 | copy number gain | See cases [RCV000447257] | Chr11:73444963..73777547 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11q13.4(chr11:73570217-73687662)x3 | copy number gain | See cases [RCV000447896] | Chr11:73570217..73687662 [GRCh37] Chr11:11q13.4 |
likely benign |
GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3 | copy number gain | See cases [RCV000447783] | Chr11:73197127..73712308 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3 | copy number gain | not provided [RCV000683339] | Chr11:73254213..73770541 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 | copy number gain | not provided [RCV000683374] | Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
NM_153614.4(DNAJB13):c.173-1G>A | single nucleotide variant | Primary ciliary dyskinesia 34 [RCV000709803] | Chr11:73959493 [GRCh38] Chr11:73670538 [GRCh37] Chr11:11q13.4 |
not provided |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_153614.4(DNAJB13):c.671G>A (p.Arg224His) | single nucleotide variant | Cough [RCV002272379]|not provided [RCV000962960] | Chr11:73968409 [GRCh38] Chr11:73679454 [GRCh37] Chr11:11q13.4 |
likely benign|uncertain significance |
NM_153614.4(DNAJB13):c.335-58_335-57insCCCCGCGC | microsatellite | not provided [RCV001535152] | Chr11:73964815..73964816 [GRCh38] Chr11:73675860..73675861 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.492+71C>G | single nucleotide variant | not provided [RCV001708364] | Chr11:73965106 [GRCh38] Chr11:73676151 [GRCh37] Chr11:11q13.4 |
benign |
NC_000011.10:g.73950411C>T | single nucleotide variant | not provided [RCV001610920] | Chr11:73950411 [GRCh38] Chr11:73661456 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-65GC[5] | microsatellite | not provided [RCV001641890] | Chr11:73964813..73964814 [GRCh38] Chr11:73675858..73675859 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys) | single nucleotide variant | DNAJB13-related condition [RCV003910413]|Primary ciliary dyskinesia 34 [RCV002282397]|not provided [RCV000882767] | Chr11:73964917 [GRCh38] Chr11:73675962 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.919A>C (p.Lys307Gln) | single nucleotide variant | DNAJB13-related condition [RCV003972898]|not provided [RCV000970470] | Chr11:73970082 [GRCh38] Chr11:73681127 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.112G>A (p.Glu38Lys) | single nucleotide variant | DNAJB13-related condition [RCV003908384]|not provided [RCV000879304] | Chr11:73958360 [GRCh38] Chr11:73669405 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.87T>C (p.Leu29=) | single nucleotide variant | not provided [RCV000937867] | Chr11:73958335 [GRCh38] Chr11:73669380 [GRCh37] Chr11:11q13.4 |
benign |
GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4 | copy number gain | not provided [RCV000846791] | Chr11:73128157..73788461 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3 | copy number gain | not provided [RCV000847026] | Chr11:73395712..73788461 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) | single nucleotide variant | DNAJB13-related condition [RCV003955562]|Primary ciliary dyskinesia 34 [RCV000853219]|not provided [RCV000972297] | Chr11:73969282 [GRCh38] Chr11:73680327 [GRCh37] Chr11:11q13.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_153614.4(DNAJB13):c.335-112TG[20] | microsatellite | not provided [RCV001637639] | Chr11:73964766..73964773 [GRCh38] Chr11:73675811..73675818 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-74T>C | single nucleotide variant | not provided [RCV001671312] | Chr11:73964804 [GRCh38] Chr11:73675849 [GRCh37] Chr11:11q13.4 |
benign |
NC_000011.10:g.73950206G>A | single nucleotide variant | not provided [RCV001688597] | Chr11:73950206 [GRCh38] Chr11:73661251 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-112TG[23] | microsatellite | not provided [RCV001637471] | Chr11:73964766..73964767 [GRCh38] Chr11:73675811..73675812 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.720+152G>A | single nucleotide variant | not provided [RCV001621503] | Chr11:73968610 [GRCh38] Chr11:73679655 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.721-285C>T | single nucleotide variant | not provided [RCV001694713] | Chr11:73968961 [GRCh38] Chr11:73680006 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.721-228G>A | single nucleotide variant | not provided [RCV001609858] | Chr11:73969018 [GRCh38] Chr11:73680063 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.334+7G>A | single nucleotide variant | not provided [RCV000930576] | Chr11:73959662 [GRCh38] Chr11:73670707 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.843G>T (p.Pro281=) | single nucleotide variant | not provided [RCV000886714] | Chr11:73970006 [GRCh38] Chr11:73681051 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.439T>A (p.Ser147Thr) | single nucleotide variant | DNAJB13-related condition [RCV003958404]|not provided [RCV000918190] | Chr11:73964982 [GRCh38] Chr11:73676027 [GRCh37] Chr11:11q13.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_153614.4(DNAJB13):c.493-8T>C | single nucleotide variant | DNAJB13-related condition [RCV003958296]|not provided [RCV000909547] | Chr11:73966130 [GRCh38] Chr11:73677175 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-70T>C | single nucleotide variant | not provided [RCV001609289] | Chr11:73964808 [GRCh38] Chr11:73675853 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.798-256C>T | single nucleotide variant | not provided [RCV001540116] | Chr11:73969705 [GRCh38] Chr11:73680750 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.943C>T (p.Leu315=) | single nucleotide variant | not provided [RCV000934967] | Chr11:73970106 [GRCh38] Chr11:73681151 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.335-56_335-55insCCCCGCGCGC | microsatellite | not provided [RCV001637135] | Chr11:73964815..73964816 [GRCh38] Chr11:73675860..73675861 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.607-171G>C | single nucleotide variant | not provided [RCV001660907] | Chr11:73968174 [GRCh38] Chr11:73679219 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.68+91C>T | single nucleotide variant | not provided [RCV001688825] | Chr11:73951228 [GRCh38] Chr11:73662273 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.721-163T>G | single nucleotide variant | not provided [RCV001596747] | Chr11:73969083 [GRCh38] Chr11:73680128 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.720+129T>C | single nucleotide variant | not provided [RCV001608660] | Chr11:73968587 [GRCh38] Chr11:73679632 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.69-317G>C | single nucleotide variant | not provided [RCV001619335] | Chr11:73958000 [GRCh38] Chr11:73669045 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-72T>C | single nucleotide variant | not provided [RCV001619557] | Chr11:73964806 [GRCh38] Chr11:73675851 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-112TG[21] | microsatellite | not provided [RCV001717919] | Chr11:73964766..73964771 [GRCh38] Chr11:73675811..73675816 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.606+249G>A | single nucleotide variant | not provided [RCV001682381] | Chr11:73966500 [GRCh38] Chr11:73677545 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.721-240C>T | single nucleotide variant | not provided [RCV001676941] | Chr11:73969006 [GRCh38] Chr11:73680051 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-289G>T | single nucleotide variant | not provided [RCV001654475] | Chr11:73964589 [GRCh38] Chr11:73675634 [GRCh37] Chr11:11q13.4 |
benign |
NC_000011.10:g.73950645A>T | single nucleotide variant | not provided [RCV001638506] | Chr11:73950645 [GRCh38] Chr11:73661690 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-112TG[18] | microsatellite | not provided [RCV001687747] | Chr11:73964766..73964777 [GRCh38] Chr11:73675811..73675822 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.334+95_334+99del | deletion | not provided [RCV001711027] | Chr11:73959749..73959753 [GRCh38] Chr11:73670794..73670798 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-112TG[19] | microsatellite | not provided [RCV001652785] | Chr11:73964766..73964775 [GRCh38] Chr11:73675811..73675820 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.798-212_798-209del | deletion | not provided [RCV001648010] | Chr11:73969746..73969749 [GRCh38] Chr11:73680791..73680794 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.607-158A>G | single nucleotide variant | not provided [RCV001693411] | Chr11:73968187 [GRCh38] Chr11:73679232 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.797+259T>C | single nucleotide variant | not provided [RCV001667185] | Chr11:73969581 [GRCh38] Chr11:73680626 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.720+334T>A | single nucleotide variant | not provided [RCV001650360] | Chr11:73968792 [GRCh38] Chr11:73679837 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.606+292G>A | single nucleotide variant | not provided [RCV001649826] | Chr11:73966543 [GRCh38] Chr11:73677588 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.334+96TTATT[2] | microsatellite | not provided [RCV001680179] | Chr11:73959751..73959755 [GRCh38] Chr11:73670796..73670800 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.173-106G>C | single nucleotide variant | not provided [RCV001669280] | Chr11:73959388 [GRCh38] Chr11:73670433 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-60_335-59insCCCCGC | insertion | not provided [RCV001641388] | Chr11:73964815..73964816 [GRCh38] Chr11:73675860..73675861 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.927G>A (p.Met309Ile) | single nucleotide variant | not provided [RCV001666213] | Chr11:73970090 [GRCh38] Chr11:73681135 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.334+277T>G | single nucleotide variant | not provided [RCV001663337] | Chr11:73959932 [GRCh38] Chr11:73670977 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.798-230C>T | single nucleotide variant | not provided [RCV001527842] | Chr11:73969731 [GRCh38] Chr11:73680776 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-64C>T | single nucleotide variant | not provided [RCV001681414] | Chr11:73964814 [GRCh38] Chr11:73675859 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.882C>T (p.Phe294=) | single nucleotide variant | not provided [RCV001650567] | Chr11:73970045 [GRCh38] Chr11:73681090 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.492+211dup | duplication | not provided [RCV001645408] | Chr11:73965245..73965246 [GRCh38] Chr11:73676290..73676291 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.68+181A>G | single nucleotide variant | not provided [RCV001649619] | Chr11:73951318 [GRCh38] Chr11:73662363 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.106T>G (p.Ser36Ala) | single nucleotide variant | Primary ciliary dyskinesia [RCV001255319]|not provided [RCV001879939] | Chr11:73958354 [GRCh38] Chr11:73669399 [GRCh37] Chr11:11q13.4 |
uncertain significance |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_153614.4(DNAJB13):c.721-205A>T | single nucleotide variant | not provided [RCV001766138] | Chr11:73969041 [GRCh38] Chr11:73680086 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.335-62_335-61insCC | insertion | not provided [RCV001527969] | Chr11:73964815..73964816 [GRCh38] Chr11:73675860..73675861 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-112TG[22] | microsatellite | not provided [RCV001695183] | Chr11:73964766..73964769 [GRCh38] Chr11:73675811..73675814 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.69-52C>A | single nucleotide variant | not provided [RCV001673668] | Chr11:73958265 [GRCh38] Chr11:73669310 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-66T>C | single nucleotide variant | not provided [RCV001688475] | Chr11:73964812 [GRCh38] Chr11:73675857 [GRCh37] Chr11:11q13.4 |
benign |
NC_000011.10:g.73950858G>C | single nucleotide variant | not provided [RCV001673922] | Chr11:73950858 [GRCh38] Chr11:73661903 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.69-28A>C | single nucleotide variant | not provided [RCV001680567] | Chr11:73958289 [GRCh38] Chr11:73669334 [GRCh37] Chr11:11q13.4 |
benign |
NC_000011.10:g.73970302T>C | single nucleotide variant | not provided [RCV001673970] | Chr11:73970302 [GRCh38] Chr11:73681347 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.797+260G>A | single nucleotide variant | not provided [RCV001694193] | Chr11:73969582 [GRCh38] Chr11:73680627 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-60_335-59insCCGC | insertion | not provided [RCV001716884] | Chr11:73964815..73964816 [GRCh38] Chr11:73675860..73675861 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.279T>C (p.His93=) | single nucleotide variant | Primary ciliary dyskinesia 34 [RCV001661459]|not provided [RCV001673237] | Chr11:73959600 [GRCh38] Chr11:73670645 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.335-68T>C | single nucleotide variant | not provided [RCV001675205] | Chr11:73964810 [GRCh38] Chr11:73675855 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.45A>G (p.Ser15=) | single nucleotide variant | not provided [RCV003107135] | Chr11:73951114 [GRCh38] Chr11:73662159 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.173-165del | deletion | not provided [RCV001757804] | Chr11:73959329 [GRCh38] Chr11:73670374 [GRCh37] Chr11:11q13.4 |
likely benign |
NC_000011.10:g.73950210C>T | single nucleotide variant | not provided [RCV001758892] | Chr11:73950210 [GRCh38] Chr11:73661255 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.335-68_335-63del | deletion | not provided [RCV001769723] | Chr11:73964809..73964814 [GRCh38] Chr11:73675854..73675859 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.-16T>G | single nucleotide variant | not provided [RCV001768114] | Chr11:73951054 [GRCh38] Chr11:73662099 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.335-76T>C | single nucleotide variant | not provided [RCV001769842] | Chr11:73964802 [GRCh38] Chr11:73675847 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.172+287G>A | single nucleotide variant | not provided [RCV001758893] | Chr11:73958707 [GRCh38] Chr11:73669752 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.335-54_335-53insCCCCGCGCGCGC | microsatellite | not provided [RCV001776536] | Chr11:73964815..73964816 [GRCh38] Chr11:73675860..73675861 [GRCh37] Chr11:11q13.4 |
likely benign |
NC_000011.10:g.73950863C>T | single nucleotide variant | not provided [RCV001759385] | Chr11:73950863 [GRCh38] Chr11:73661908 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.492+74G>C | single nucleotide variant | not provided [RCV001757675] | Chr11:73965109 [GRCh38] Chr11:73676154 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.320A>G (p.Asn107Ser) | single nucleotide variant | not provided [RCV001950079] | Chr11:73959641 [GRCh38] Chr11:73670686 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.607G>A (p.Gly203Ser) | single nucleotide variant | not provided [RCV001896804] | Chr11:73968345 [GRCh38] Chr11:73679390 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11q13.4(chr11:73444963-73777547) | copy number gain | not specified [RCV002052936] | Chr11:73444963..73777547 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.578G>A (p.Arg193His) | single nucleotide variant | not provided [RCV001985239] | Chr11:73966223 [GRCh38] Chr11:73677268 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.577C>T (p.Arg193Cys) | single nucleotide variant | not provided [RCV001987555] | Chr11:73966222 [GRCh38] Chr11:73677267 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.901C>T (p.Arg301Cys) | single nucleotide variant | not provided [RCV001935445] | Chr11:73970064 [GRCh38] Chr11:73681109 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.493-3T>C | single nucleotide variant | not provided [RCV002033051] | Chr11:73966135 [GRCh38] Chr11:73677180 [GRCh37] Chr11:11q13.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_153614.4(DNAJB13):c.73C>G (p.Arg25Gly) | single nucleotide variant | not provided [RCV002031902] | Chr11:73958321 [GRCh38] Chr11:73669366 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.506A>G (p.Asp169Gly) | single nucleotide variant | not provided [RCV001938837] | Chr11:73966151 [GRCh38] Chr11:73677196 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.73C>A (p.Arg25Ser) | single nucleotide variant | not provided [RCV001952888] | Chr11:73958321 [GRCh38] Chr11:73669366 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.886A>G (p.Ile296Val) | single nucleotide variant | not provided [RCV001904202] | Chr11:73970049 [GRCh38] Chr11:73681094 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.501C>T (p.Asn167=) | single nucleotide variant | not provided [RCV002192835] | Chr11:73966146 [GRCh38] Chr11:73677191 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly) | single nucleotide variant | Primary ciliary dyskinesia 34 [RCV002494224]|not provided [RCV002107674] | Chr11:73959593 [GRCh38] Chr11:73670638 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.627A>G (p.Ala209=) | single nucleotide variant | not provided [RCV002204949] | Chr11:73968365 [GRCh38] Chr11:73679410 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.19T>A (p.Ser7Thr) | single nucleotide variant | DNAJB13-related condition [RCV003958733]|not provided [RCV002115766] | Chr11:73951088 [GRCh38] Chr11:73662133 [GRCh37] Chr11:11q13.4 |
benign|likely benign |
NM_153614.4(DNAJB13):c.444G>T (p.Leu148=) | single nucleotide variant | not provided [RCV002133758] | Chr11:73964987 [GRCh38] Chr11:73676032 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.303C>T (p.His101=) | single nucleotide variant | not provided [RCV002212270] | Chr11:73959624 [GRCh38] Chr11:73670669 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.156C>T (p.Tyr52=) | single nucleotide variant | not provided [RCV002220718] | Chr11:73958404 [GRCh38] Chr11:73669449 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.363A>T (p.Val121=) | single nucleotide variant | not provided [RCV002198727] | Chr11:73964906 [GRCh38] Chr11:73675951 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.831G>A (p.Gly277=) | single nucleotide variant | not provided [RCV002098748] | Chr11:73969994 [GRCh38] Chr11:73681039 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.296T>C (p.Val99Ala) | single nucleotide variant | Inborn genetic diseases [RCV003250834]|not provided [RCV003112510] | Chr11:73959617 [GRCh38] Chr11:73670662 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NC_000011.9:g.(?_71146421)_(75283128_?)dup | duplication | 3-methylglutaconic aciduria, type VIIB [RCV003122786] | Chr11:71146421..75283128 [GRCh37] Chr11:11q13.4-13.5 |
uncertain significance |
NM_153614.4(DNAJB13):c.335-60C>T | single nucleotide variant | not provided [RCV003129411] | Chr11:73964818 [GRCh38] Chr11:73675863 [GRCh37] Chr11:11q13.4 |
likely benign |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs) | indel | Primary ciliary dyskinesia 34 [RCV002471447] | Chr11:73958340..73958343 [GRCh38] Chr11:73669385..73669388 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_153614.4(DNAJB13):c.335-65GC[7] | microsatellite | not provided [RCV002306196] | Chr11:73964812..73964813 [GRCh38] Chr11:73675857..73675858 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.665G>A (p.Arg222His) | single nucleotide variant | not provided [RCV002994818] | Chr11:73968403 [GRCh38] Chr11:73679448 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.192C>T (p.Tyr64=) | single nucleotide variant | not provided [RCV003095829] | Chr11:73959513 [GRCh38] Chr11:73670558 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.416A>G (p.Gln139Arg) | single nucleotide variant | not provided [RCV002967638] | Chr11:73964959 [GRCh38] Chr11:73676004 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.180G>T (p.Lys60Asn) | single nucleotide variant | Inborn genetic diseases [RCV002901695] | Chr11:73959501 [GRCh38] Chr11:73670546 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.934C>T (p.Gln312Ter) | single nucleotide variant | not provided [RCV002751279] | Chr11:73970097 [GRCh38] Chr11:73681142 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.798-3C>T | single nucleotide variant | not provided [RCV002751471] | Chr11:73969958 [GRCh38] Chr11:73681003 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.607-4C>G | single nucleotide variant | not provided [RCV002862760] | Chr11:73968341 [GRCh38] Chr11:73679386 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.392G>A (p.Arg131Gln) | single nucleotide variant | Inborn genetic diseases [RCV002730134]|not provided [RCV002730135] | Chr11:73964935 [GRCh38] Chr11:73675980 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.21T>G (p.Ser7=) | single nucleotide variant | not provided [RCV002570903] | Chr11:73951090 [GRCh38] Chr11:73662135 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.664C>T (p.Arg222Cys) | single nucleotide variant | Primary ciliary dyskinesia 34 [RCV003146718]|not provided [RCV003002696] | Chr11:73968402 [GRCh38] Chr11:73679447 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.90G>A (p.Lys30=) | single nucleotide variant | not provided [RCV002590558] | Chr11:73958338 [GRCh38] Chr11:73669383 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.572G>A (p.Gly191Asp) | single nucleotide variant | not provided [RCV002639298] | Chr11:73966217 [GRCh38] Chr11:73677262 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.488G>A (p.Arg163Lys) | single nucleotide variant | not provided [RCV002662433] | Chr11:73965031 [GRCh38] Chr11:73676076 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.98del (p.Pro33fs) | deletion | not provided [RCV002979110] | Chr11:73958344 [GRCh38] Chr11:73669389 [GRCh37] Chr11:11q13.4 |
pathogenic|uncertain significance |
NM_153614.4(DNAJB13):c.94C>T (p.His32Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002827497] | Chr11:73958342 [GRCh38] Chr11:73669387 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.833T>C (p.Met278Thr) | single nucleotide variant | not provided [RCV002625501] | Chr11:73969996 [GRCh38] Chr11:73681041 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.172+13G>A | single nucleotide variant | not provided [RCV002800675] | Chr11:73958433 [GRCh38] Chr11:73669478 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.902G>A (p.Arg301His) | single nucleotide variant | Inborn genetic diseases [RCV002709557] | Chr11:73970065 [GRCh38] Chr11:73681110 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.188T>A (p.Ile63Asn) | single nucleotide variant | Inborn genetic diseases [RCV002743104] | Chr11:73959509 [GRCh38] Chr11:73670554 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.808T>A (p.Phe270Ile) | single nucleotide variant | not provided [RCV002623439] | Chr11:73969971 [GRCh38] Chr11:73681016 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.632T>G (p.Ile211Ser) | single nucleotide variant | not provided [RCV003024802] | Chr11:73968370 [GRCh38] Chr11:73679415 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.143T>C (p.Ile48Thr) | single nucleotide variant | not provided [RCV002667726] | Chr11:73958391 [GRCh38] Chr11:73669436 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.643G>A (p.Val215Ile) | single nucleotide variant | not provided [RCV002958569] | Chr11:73968381 [GRCh38] Chr11:73679426 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.606+6G>C | single nucleotide variant | not provided [RCV002932997] | Chr11:73966257 [GRCh38] Chr11:73677302 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.334+19C>T | single nucleotide variant | not provided [RCV002600966] | Chr11:73959674 [GRCh38] Chr11:73670719 [GRCh37] Chr11:11q13.4 |
benign |
NM_153614.4(DNAJB13):c.337T>A (p.Phe113Ile) | single nucleotide variant | Inborn genetic diseases [RCV002960271] | Chr11:73964880 [GRCh38] Chr11:73675925 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.836C>T (p.Pro279Leu) | single nucleotide variant | Inborn genetic diseases [RCV002934148] | Chr11:73969999 [GRCh38] Chr11:73681044 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.221G>C (p.Gly74Ala) | single nucleotide variant | not provided [RCV002720150] | Chr11:73959542 [GRCh38] Chr11:73670587 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.721-14C>T | single nucleotide variant | not provided [RCV002582986] | Chr11:73969232 [GRCh38] Chr11:73680277 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.68+8G>C | single nucleotide variant | not provided [RCV003093473] | Chr11:73951145 [GRCh38] Chr11:73662190 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.68C>T (p.Ala23Val) | single nucleotide variant | not provided [RCV002633372] | Chr11:73951137 [GRCh38] Chr11:73662182 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.27C>T (p.Leu9=) | single nucleotide variant | not provided [RCV002586099] | Chr11:73951096 [GRCh38] Chr11:73662141 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.824G>C (p.Gly275Ala) | single nucleotide variant | Inborn genetic diseases [RCV003206082] | Chr11:73969987 [GRCh38] Chr11:73681032 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.335-2A>G | single nucleotide variant | not provided [RCV003571193] | Chr11:73964876 [GRCh38] Chr11:73675921 [GRCh37] Chr11:11q13.4 |
likely pathogenic |
GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1 | copy number loss | not provided [RCV003483128] | Chr11:72308632..74236530 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 | copy number gain | not provided [RCV003484842] | Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
NM_153614.4(DNAJB13):c.185G>A (p.Gly62Asp) | single nucleotide variant | not provided [RCV003579496] | Chr11:73959506 [GRCh38] Chr11:73670551 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.334+13C>T | single nucleotide variant | not provided [RCV003830966] | Chr11:73959668 [GRCh38] Chr11:73670713 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.558C>T (p.Pro186=) | single nucleotide variant | not provided [RCV003573635] | Chr11:73966203 [GRCh38] Chr11:73677248 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.696C>T (p.Phe232=) | single nucleotide variant | DNAJB13-related condition [RCV003966468]|not provided [RCV003545464] | Chr11:73968434 [GRCh38] Chr11:73679479 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.173-13T>C | single nucleotide variant | not provided [RCV003549278] | Chr11:73959481 [GRCh38] Chr11:73670526 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.425G>A (p.Arg142Gln) | single nucleotide variant | not provided [RCV003833438] | Chr11:73964968 [GRCh38] Chr11:73676013 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.618C>T (p.Ile206=) | single nucleotide variant | not provided [RCV003726178] | Chr11:73968356 [GRCh38] Chr11:73679401 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.900C>A (p.Thr300=) | single nucleotide variant | not provided [RCV003707983] | Chr11:73970063 [GRCh38] Chr11:73681108 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.690C>G (p.Leu230=) | single nucleotide variant | not provided [RCV003860856] | Chr11:73968428 [GRCh38] Chr11:73679473 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.173-4A>G | single nucleotide variant | not provided [RCV003707877] | Chr11:73959490 [GRCh38] Chr11:73670535 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.334+17C>T | single nucleotide variant | not provided [RCV003820172] | Chr11:73959672 [GRCh38] Chr11:73670717 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.361G>T (p.Val121Leu) | single nucleotide variant | not provided [RCV003844203] | Chr11:73964904 [GRCh38] Chr11:73675949 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.334+10C>T | single nucleotide variant | not provided [RCV003685886] | Chr11:73959665 [GRCh38] Chr11:73670710 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.609C>T (p.Gly203=) | single nucleotide variant | not provided [RCV003719942] | Chr11:73968347 [GRCh38] Chr11:73679392 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.296T>A (p.Val99Glu) | single nucleotide variant | not provided [RCV003727030] | Chr11:73959617 [GRCh38] Chr11:73670662 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.721-12G>A | single nucleotide variant | not provided [RCV003550319] | Chr11:73969234 [GRCh38] Chr11:73680279 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.720+2T>C | single nucleotide variant | not provided [RCV003550408] | Chr11:73968460 [GRCh38] Chr11:73679505 [GRCh37] Chr11:11q13.4 |
likely pathogenic |
NM_153614.4(DNAJB13):c.381G>A (p.Gly127=) | single nucleotide variant | not provided [RCV003861518] | Chr11:73964924 [GRCh38] Chr11:73675969 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.559G>A (p.Gly187Ser) | single nucleotide variant | not provided [RCV003860988] | Chr11:73966204 [GRCh38] Chr11:73677249 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_153614.4(DNAJB13):c.172+1G>A | single nucleotide variant | not provided [RCV003820122] | Chr11:73958421 [GRCh38] Chr11:73669466 [GRCh37] Chr11:11q13.4 |
likely pathogenic |
NM_153614.4(DNAJB13):c.822A>G (p.Pro274=) | single nucleotide variant | not provided [RCV003842778] | Chr11:73969985 [GRCh38] Chr11:73681030 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_153614.4(DNAJB13):c.-9T>C | single nucleotide variant | DNAJB13-related condition [RCV003897241] | Chr11:73951061 [GRCh38] Chr11:73662106 [GRCh37] Chr11:11q13.4 |
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. |
D11S4207 |
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MARC_16091-16092:1018021675:1 |
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D10S16 | No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GDB:335751 |
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L17971 |
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D1S1423 |
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D11S2921 |
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D10S16 |
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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 | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | |||||||||||||||||
Medium | 2 | 2 | 69 | 2 | 2 | 6 | 112 | 14 | |||||||||
Low | 113 | 87 | 196 | 27 | 530 | 30 | 80 | 46 | 500 | 147 | 616 | 527 | 5 | 54 | 1 | 1 | |
Below cutoff | 2085 | 2449 | 1366 | 462 | 1270 | 304 | 3916 | 1793 | 3162 | 228 | 659 | 1037 | 165 | 1092 | 2537 | 3 |
RefSeq Transcripts | NG_053111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001377263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_153614 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005273984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017017675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017017679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024448507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024448508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024448509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024448510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047426915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368721 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054368727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008488394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_949909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF516185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK058095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK128589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP003717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY138810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY325766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC127689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000339764 ⟹ ENSP00000344431 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000535730 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000537753 ⟹ ENSP00000439711 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000542350 ⟹ ENSP00000440778 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000543947 ⟹ ENSP00000438576 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001377263 ⟹ NP_001364192 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_153614 ⟹ NP_705842 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005273984 ⟹ XP_005274041 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545004 ⟹ XP_011543306 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545005 ⟹ XP_011543307 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545009 ⟹ XP_011543311 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545013 ⟹ XP_011543315 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545014 ⟹ XP_011543316 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545015 ⟹ XP_011543317 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017017675 ⟹ XP_016873164 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017017679 ⟹ XP_016873168 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024448507 ⟹ XP_024304275 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024448508 ⟹ XP_024304276 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024448509 ⟹ XP_024304277 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024448510 ⟹ XP_024304278 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047426915 ⟹ XP_047282871 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368714 ⟹ XP_054224689 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368715 ⟹ XP_054224690 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368716 ⟹ XP_054224691 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368717 ⟹ XP_054224692 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368718 ⟹ XP_054224693 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368719 ⟹ XP_054224694 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368720 ⟹ XP_054224695 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368721 ⟹ XP_054224696 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368722 ⟹ XP_054224697 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368723 ⟹ XP_054224698 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368724 ⟹ XP_054224699 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368725 ⟹ XP_054224700 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368726 ⟹ XP_054224701 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054368727 ⟹ XP_054224702 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008488394 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_949909 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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||||||||
Sequence: |
Protein RefSeqs | NP_001364192 | (Get FASTA) | NCBI Sequence Viewer |
NP_705842 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005274041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011543306 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011543307 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011543311 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011543315 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011543316 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011543317 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016873164 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016873168 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024304275 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024304276 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024304277 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024304278 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047282871 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224689 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224690 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224691 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224692 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224693 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224694 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224695 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224696 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224697 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224698 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224699 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224700 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224701 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054224702 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAN15929 | (Get FASTA) | NCBI Sequence Viewer |
AAP47195 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ17190 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74920 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74921 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000344431 | ||
ENSP00000344431.1 | |||
ENSP00000438576.1 | |||
ENSP00000439711.1 | |||
ENSP00000440778.1 | |||
GenBank Protein | P59910 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_705842 ⟸ NM_153614 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B3LEP4 (UniProtKB/Swiss-Prot), Q8IZW5 (UniProtKB/Swiss-Prot), P59910 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005274041 ⟸ XM_005273984 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011543311 ⟸ XM_011545009 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011543306 ⟸ XM_011545004 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011543307 ⟸ XM_011545005 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011543315 ⟸ XM_011545013 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_011543316 ⟸ XM_011545014 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_011543317 ⟸ XM_011545015 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_016873168 ⟸ XM_017017679 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_016873164 ⟸ XM_017017675 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_024304278 ⟸ XM_024448510 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_024304276 ⟸ XM_024448508 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_024304277 ⟸ XM_024448509 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_024304275 ⟸ XM_024448507 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001364192 ⟸ NM_001377263 |
- Peptide Label: | isoform 2 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000440778 ⟸ ENST00000542350 |
RefSeq Acc Id: | ENSP00000438576 ⟸ ENST00000543947 |
RefSeq Acc Id: | ENSP00000344431 ⟸ ENST00000339764 |
RefSeq Acc Id: | ENSP00000439711 ⟸ ENST00000537753 |
RefSeq Acc Id: | XP_047282871 ⟸ XM_047426915 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224689 ⟸ XM_054368714 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054224690 ⟸ XM_054368715 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054224698 ⟸ XM_054368723 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224695 ⟸ XM_054368720 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224697 ⟸ XM_054368722 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224696 ⟸ XM_054368721 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224692 ⟸ XM_054368717 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224691 ⟸ XM_054368716 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054224699 ⟸ XM_054368724 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054224701 ⟸ XM_054368726 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054224700 ⟸ XM_054368725 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054224694 ⟸ XM_054368719 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224693 ⟸ XM_054368718 |
- Peptide Label: | isoform X4 |
- UniProtKB: | H0YFX2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054224702 ⟸ XM_054368727 |
- Peptide Label: | isoform X7 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P59910-F1-model_v2 | AlphaFold | P59910 | 1-316 | view protein structure |
RGD ID: | 7221515 | ||||||||
Promoter ID: | EPDNEW_H16502 | ||||||||
Type: | initiation region | ||||||||
Name: | DNAJB13_1 | ||||||||
Description: | DnaJ heat shock protein family member B13 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:30718 | AgrOrtholog |
COSMIC | DNAJB13 | COSMIC |
Ensembl Genes | ENSG00000187726 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000339764 | ENTREZGENE |
ENST00000339764.6 | UniProtKB/Swiss-Prot | |
ENST00000537753.5 | UniProtKB/Swiss-Prot | |
ENST00000542350.5 | UniProtKB/TrEMBL | |
ENST00000543947.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.287.110 | UniProtKB/Swiss-Prot |
Urease metallochaperone UreE, N-terminal domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000187726 | GTEx |
HGNC ID | HGNC:30718 | ENTREZGENE |
Human Proteome Map | DNAJB13 | Human Proteome Map |
InterPro | DnaJ_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DnaJ_domain | UniProtKB/Swiss-Prot | |
DnaJ_domain_CS | UniProtKB/Swiss-Prot | |
HSP40/DnaJ_pept-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
J_dom_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:374407 | UniProtKB/Swiss-Prot |
NCBI Gene | 374407 | ENTREZGENE |
OMIM | 610263 | OMIM |
PANTHER | DNAJ HOMOLOG SUBFAMILY B MEMBER 13 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DNAJ HOMOLOG SUBFAMILY C MEMBER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DnaJ | UniProtKB/Swiss-Prot |
DnaJ_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA142671972 | PharmGKB |
PRINTS | JDOMAIN | UniProtKB/Swiss-Prot |
PROSITE | DNAJ_1 | UniProtKB/Swiss-Prot |
DNAJ_2 | UniProtKB/Swiss-Prot | |
SMART | DnaJ | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF46565 | UniProtKB/Swiss-Prot |
SSF49493 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | B3LEP4 | ENTREZGENE |
DJB13_HUMAN | UniProtKB/Swiss-Prot | |
H0YFX2 | ENTREZGENE, UniProtKB/TrEMBL | |
P59910 | ENTREZGENE | |
Q8IZW5 | ENTREZGENE | |
UniProt Secondary | B3LEP4 | UniProtKB/Swiss-Prot |
Q8IZW5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | DNAJB13 | DnaJ heat shock protein family (Hsp40) member B13 | DNAJB13 | DnaJ (Hsp40) homolog, subfamily B, member 13 | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | DNAJB13 | DnaJ (Hsp40) homolog, subfamily B, member 13 | DNAJB13 | DnaJ (Hsp40) related, subfamily B, member 13 | Symbol and/or name change | 5135510 | APPROVED |