ALLC (allantoicase) - Rat Genome Database

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Gene: ALLC (allantoicase) Homo sapiens
Analyze
Symbol: ALLC
Name: allantoicase
RGD ID: 736731
HGNC Page HGNC:17377
Description: Predicted to enable allantoicase activity. Predicted to be involved in allantoin catabolic process.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ALC; allantoate amidinohydrolase; probable allantoicase; probable inactive allantoicase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3823,645,819 - 3,702,671 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl23,658,200 - 3,702,671 (+)EnsemblGRCh38hg38GRCh38
GRCh3723,705,790 - 3,750,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3623,683,661 - 3,728,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 3423,235,579 - 3,243,627NCBI
Celera23,714,865 - 3,759,339 (+)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef23,647,145 - 3,691,906 (+)NCBIHuRef
CHM1_123,635,517 - 3,679,645 (+)NCBICHM1_1
T2T-CHM13v2.023,668,711 - 3,725,243 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# 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
Additional References at PubMed
PMID:11054555   PMID:12036579   PMID:12477932   PMID:15489334   PMID:15815621   PMID:16344560   PMID:21873635   PMID:23251661   PMID:24792382   PMID:25609649   PMID:25798074  


Genomics

Comparative Map Data
ALLC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3823,645,819 - 3,702,671 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl23,658,200 - 3,702,671 (+)EnsemblGRCh38hg38GRCh38
GRCh3723,705,790 - 3,750,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3623,683,661 - 3,728,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 3423,235,579 - 3,243,627NCBI
Celera23,714,865 - 3,759,339 (+)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef23,647,145 - 3,691,906 (+)NCBIHuRef
CHM1_123,635,517 - 3,679,645 (+)NCBICHM1_1
T2T-CHM13v2.023,668,711 - 3,725,243 (+)NCBIT2T-CHM13v2.0
Allc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391228,603,754 - 28,632,527 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1228,603,754 - 28,632,522 (-)EnsemblGRCm39 Ensembl
GRCm381228,553,755 - 28,582,528 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1228,553,755 - 28,582,523 (-)EnsemblGRCm38mm10GRCm38
MGSCv371229,238,620 - 29,267,348 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361229,140,023 - 29,168,751 (-)NCBIMGSCv36mm8
Celera1230,043,562 - 30,072,354 (-)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1210.97NCBI
Allc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8650,907,575 - 50,942,665 (-)NCBIGRCr8
mRatBN7.2645,179,181 - 45,214,275 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl645,179,187 - 45,214,223 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx645,470,284 - 45,505,330 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0645,785,148 - 45,820,202 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0645,222,018 - 45,257,066 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0647,812,989 - 47,848,068 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl647,774,060 - 47,848,075 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0656,515,114 - 56,549,982 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4646,421,144 - 46,456,709 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1646,434,446 - 46,444,647 (-)NCBI
Celera644,403,661 - 44,438,351 (-)NCBICelera
Cytogenetic Map6q16NCBI
Allc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554873,756,789 - 3,774,656 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554873,757,362 - 3,774,067 (-)NCBIChiLan1.0ChiLan1.0
ALLC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212122,801,785 - 122,848,189 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A122,805,762 - 122,852,172 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A3,672,945 - 3,719,340 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A3,591,862 - 3,637,371 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A3,591,862 - 3,637,371 (+)Ensemblpanpan1.1panPan2
ALLC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1172,185,371 - 2,215,256 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl172,185,432 - 2,215,248 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha172,171,942 - 2,201,365 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0172,280,188 - 2,309,631 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl172,280,249 - 2,309,623 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1172,164,986 - 2,194,416 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0172,185,876 - 2,215,277 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0172,187,906 - 2,217,359 (+)NCBIUU_Cfam_GSD_1.0
Allc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629247,027,742 - 47,060,727 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365321,798,884 - 1,815,676 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365321,798,884 - 1,815,666 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALLC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.13131,195,876 - 131,213,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23140,404,710 - 140,422,955 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALLC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114103,944,649 - 103,989,845 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl14103,944,761 - 103,975,876 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660458,305,545 - 8,349,837 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Allc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248465,161,153 - 5,170,313 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALLC
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3
pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3
pathogenic
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 copy number gain See cases [RCV000052932] Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3 copy number gain See cases [RCV000052599] Chr2:2542162..3678127 [GRCh38]
Chr2:2545934..3725717 [GRCh37]
Chr2:2524941..3703592 [NCBI36]
Chr2:2p25.3
uncertain significance
GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3 copy number gain See cases [RCV000052625] Chr2:3293776..3858635 [GRCh38]
Chr2:3297547..3906225 [GRCh37]
Chr2:3276554..3884100 [NCBI36]
Chr2:2p25.3
uncertain significance
GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3 copy number gain See cases [RCV000133936] Chr2:30341..4932359 [GRCh38]
Chr2:30341..4979949 [GRCh37]
Chr2:20341..4957824 [NCBI36]
Chr2:2p25.3-25.2
pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p25.3(chr2:3522147-3849658)x3 copy number gain See cases [RCV000134899] Chr2:3522147..3849658 [GRCh38]
Chr2:3525918..3897248 [GRCh37]
Chr2:3504922..3875123 [NCBI36]
Chr2:2p25.3
uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1
pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3 copy number gain See cases [RCV000138364] Chr2:2797196..4697562 [GRCh38]
Chr2:2800968..4745152 [GRCh37]
Chr2:2779975..4723027 [NCBI36]
Chr2:2p25.3-25.2
uncertain significance
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1
pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3 copy number gain See cases [RCV000140981] Chr2:17019..4957745 [GRCh38]
Chr2:17019..5005335 [GRCh37]
Chr2:7019..4983210 [NCBI36]
Chr2:2p25.3-25.2
likely pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3 copy number gain See cases [RCV000142735] Chr2:30341..4642399 [GRCh38]
Chr2:30341..4689989 [GRCh37]
Chr2:20341..4667864 [NCBI36]
Chr2:2p25.3-25.2
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh38/hg38 2p25.3(chr2:12770-4318861)x3 copy number gain See cases [RCV000143781] Chr2:12770..4318861 [GRCh38]
Chr2:12770..4366451 [GRCh37]
Chr2:2770..4344326 [NCBI36]
Chr2:2p25.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3 copy number gain not provided [RCV000682156] Chr2:12770..4823625 [GRCh37]
Chr2:2p25.3-25.2
pathogenic
GRCh37/hg19 2p25.3(chr2:3630569-3855896)x3 copy number gain not provided [RCV000752833] Chr2:3630569..3855896 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3501050-3794065)x3 copy number gain not provided [RCV000752832] Chr2:3501050..3794065 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3(chr2:3630569-3859061)x3 copy number gain not provided [RCV000752834] Chr2:3630569..3859061 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3701336-3767991)x4 copy number gain not provided [RCV000752835] Chr2:3701336..3767991 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3727000-3736740)x1 copy number loss not provided [RCV000740300] Chr2:3727000..3736740 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3727000-3737760)x1 copy number loss not provided [RCV000740301] Chr2:3727000..3737760 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3729254-3736740)x1 copy number loss not provided [RCV000740302] Chr2:3729254..3736740 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3729254-3737760)x1 copy number loss not provided [RCV000740303] Chr2:3729254..3737760 [GRCh37]
Chr2:2p25.3
benign
GRCh37/hg19 2p25.3(chr2:3734164-3752350)x1 copy number loss not provided [RCV000740304] Chr2:3734164..3752350 [GRCh37]
Chr2:2p25.3
benign
NM_018436.4(ALLC):c.868T>C (p.Cys290Arg) single nucleotide variant not provided [RCV000961945] Chr2:3701529 [GRCh38]
Chr2:3749119 [GRCh37]
Chr2:2p25.3
benign
NM_018436.4(ALLC):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV000961944] Chr2:3697400 [GRCh38]
Chr2:3744990 [GRCh37]
Chr2:2p25.3
benign
NM_018436.4(ALLC):c.721G>T (p.Asp241Tyr) single nucleotide variant Inborn genetic diseases [RCV003270944] Chr2:3696328 [GRCh38]
Chr2:3743918 [GRCh37]
Chr2:2p25.3
uncertain significance
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847257] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1
pathogenic
GRCh37/hg19 2p25.3(chr2:12770-3819558)x3 copy number gain not provided [RCV000846909] Chr2:12770..3819558 [GRCh37]
Chr2:2p25.3
uncertain significance
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847256] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1
pathogenic
GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3 copy number gain not provided [RCV001005221] Chr2:1045542..4104255 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.955C>G (p.Pro319Ala) single nucleotide variant Inborn genetic diseases [RCV003240231] Chr2:3701616 [GRCh38]
Chr2:3749206 [GRCh37]
Chr2:2p25.3
uncertain significance
GRCh37/hg19 2p25.3(chr2:2074335-3934366)x3 copy number gain not provided [RCV001259634] Chr2:2074335..3934366 [GRCh37]
Chr2:2p25.3
pathogenic
GRCh37/hg19 2p25.3-25.2(chr2:3385474-4974948)x3 copy number gain not provided [RCV001259638] Chr2:3385474..4974948 [GRCh37]
Chr2:2p25.3-25.2
uncertain significance
GRCh37/hg19 2p25.3-25.2(chr2:2529149-5511339)x3 copy number gain not provided [RCV001259639] Chr2:2529149..5511339 [GRCh37]
Chr2:2p25.3-25.2
uncertain significance
GRCh37/hg19 2p25.3(chr2:3498882-3800549) copy number gain not specified [RCV002053045] Chr2:3498882..3800549 [GRCh37]
Chr2:2p25.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3
pathogenic
NM_018436.4(ALLC):c.284C>A (p.Ala95Glu) single nucleotide variant Inborn genetic diseases [RCV002734346] Chr2:3679980 [GRCh38]
Chr2:3727570 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.513T>A (p.Asp171Glu) single nucleotide variant Inborn genetic diseases [RCV002773585] Chr2:3695718 [GRCh38]
Chr2:3743308 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.1054A>G (p.Ile352Val) single nucleotide variant Inborn genetic diseases [RCV002734211] Chr2:3702441 [GRCh38]
Chr2:3750031 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.724C>T (p.Arg242Trp) single nucleotide variant Inborn genetic diseases [RCV002986487] Chr2:3696331 [GRCh38]
Chr2:3743921 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.938C>T (p.Pro313Leu) single nucleotide variant Inborn genetic diseases [RCV002641642] Chr2:3701599 [GRCh38]
Chr2:3749189 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.26G>C (p.Gly9Ala) single nucleotide variant Inborn genetic diseases [RCV002709242] Chr2:3671183 [GRCh38]
Chr2:3718773 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.725G>A (p.Arg242Gln) single nucleotide variant Inborn genetic diseases [RCV002641974] Chr2:3696332 [GRCh38]
Chr2:3743922 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.610G>A (p.Gly204Arg) single nucleotide variant Inborn genetic diseases [RCV002850630] Chr2:3695815 [GRCh38]
Chr2:3743405 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.436C>G (p.Pro146Ala) single nucleotide variant Inborn genetic diseases [RCV002703581] Chr2:3682999 [GRCh38]
Chr2:3730589 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.467A>G (p.Asn156Ser) single nucleotide variant Inborn genetic diseases [RCV002672351] Chr2:3683030 [GRCh38]
Chr2:3730620 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.217C>T (p.Arg73Trp) single nucleotide variant Inborn genetic diseases [RCV002988980] Chr2:3679913 [GRCh38]
Chr2:3727503 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.19T>A (p.Ser7Thr) single nucleotide variant Inborn genetic diseases [RCV003174596] Chr2:3671176 [GRCh38]
Chr2:3718766 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.97T>C (p.Cys33Arg) single nucleotide variant Inborn genetic diseases [RCV003309445] Chr2:3678480 [GRCh38]
Chr2:3726070 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.1012A>T (p.Thr338Ser) single nucleotide variant Inborn genetic diseases [RCV003309860] Chr2:3702399 [GRCh38]
Chr2:3749989 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.737T>C (p.Leu246Ser) single nucleotide variant Inborn genetic diseases [RCV003365172] Chr2:3696344 [GRCh38]
Chr2:3743934 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.95C>G (p.Pro32Arg) single nucleotide variant Inborn genetic diseases [RCV003353308] Chr2:3678478 [GRCh38]
Chr2:3726068 [GRCh37]
Chr2:2p25.3
uncertain significance
NM_018436.4(ALLC):c.975+4C>T single nucleotide variant not provided [RCV003425490] Chr2:3701640 [GRCh38]
Chr2:3749230 [GRCh37]
Chr2:2p25.3
likely benign
GRCh37/hg19 2p25.3(chr2:3682085-3782675)x1 copy number loss not provided [RCV003484605] Chr2:3682085..3782675 [GRCh37]
Chr2:2p25.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:525
Count of miRNA genes:418
Interacting mature miRNAs:447
Transcripts:ENST00000252505, ENST00000471711, ENST00000476389
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
RH98402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3723,750,010 - 3,750,150UniSTSGRCh37
Build 3623,727,885 - 3,728,025RGDNCBI36
Celera23,759,088 - 3,759,228RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2p25.3UniSTS
HuRef23,691,655 - 3,691,795UniSTS
GeneMap99-GB4 RH Map222.38UniSTS
D18S1347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3723,745,109 - 3,745,426UniSTSGRCh37
Build 3623,722,984 - 3,723,301RGDNCBI36
Celera23,754,187 - 3,754,504RGD
Cytogenetic Map2q35UniSTS
HuRef23,686,754 - 3,687,071UniSTS
Whitehead-RH Map234.5UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map216.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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
High
Medium 3 1 1 1 411 414 1 355 1 410
Low 138 427 810 357 23 348 502 129 1039 83 188 99 10 277 324
Below cutoff 1797 1662 748 165 563 66 2388 1471 2041 146 607 933 102 818 1444

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF215924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB054905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000252505   ⟹   ENSP00000252505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl23,658,200 - 3,702,671 (+)Ensembl
RefSeq Acc Id: ENST00000471711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl23,695,091 - 3,702,448 (+)Ensembl
RefSeq Acc Id: ENST00000476389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl23,694,621 - 3,702,671 (+)Ensembl
RefSeq Acc Id: NM_018436   ⟹   NP_060906
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,658,200 - 3,702,671 (+)NCBI
GRCh3723,705,786 - 3,750,261 (+)RGD
Build 3623,683,661 - 3,728,136 (+)NCBI Archive
Celera23,714,865 - 3,759,339 (+)RGD
HuRef23,647,145 - 3,691,906 (+)ENTREZGENE
CHM1_123,635,517 - 3,679,645 (+)NCBI
T2T-CHM13v2.023,681,121 - 3,725,243 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510369   ⟹   XP_011508671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,671,103 - 3,702,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004495   ⟹   XP_016859984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,645,819 - 3,702,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004496   ⟹   XP_016859985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,677,080 - 3,702,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004497   ⟹   XP_016859986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,681,122 - 3,702,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004498   ⟹   XP_016859987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,683,748 - 3,702,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054342999   ⟹   XP_054198974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.023,668,711 - 3,725,243 (+)NCBI
RefSeq Acc Id: XM_054343000   ⟹   XP_054198975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.023,694,043 - 3,725,243 (+)NCBI
RefSeq Acc Id: XM_054343001   ⟹   XP_054198976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.023,699,578 - 3,725,243 (+)NCBI
RefSeq Acc Id: XM_054343002   ⟹   XP_054198977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.023,703,621 - 3,725,243 (+)NCBI
RefSeq Acc Id: XM_054343003   ⟹   XP_054198978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.023,706,248 - 3,725,243 (+)NCBI
RefSeq Acc Id: NP_060906   ⟸   NM_018436
- UniProtKB: Q96RE6 (UniProtKB/Swiss-Prot),   Q5RL81 (UniProtKB/Swiss-Prot),   Q53T95 (UniProtKB/Swiss-Prot),   Q9NZA7 (UniProtKB/Swiss-Prot),   Q8N6M5 (UniProtKB/Swiss-Prot),   B4DY77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508671   ⟸   XM_011510369
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859984   ⟸   XM_017004495
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859985   ⟸   XM_017004496
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859986   ⟸   XM_017004497
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859987   ⟸   XM_017004498
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000252505   ⟸   ENST00000252505
RefSeq Acc Id: XP_054198974   ⟸   XM_054342999
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198975   ⟸   XM_054343000
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198976   ⟸   XM_054343001
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198977   ⟸   XM_054343002
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198978   ⟸   XM_054343003
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N6M5-F1-model_v2 AlphaFold Q8N6M5 1-391 view protein structure

Promoters
RGD ID:6859564
Promoter ID:EPDNEW_H2947
Type:multiple initiation site
Name:ALLC_1
Description:allantoicase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3823,658,209 - 3,658,269EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17377 AgrOrtholog
COSMIC ALLC COSMIC
Ensembl Genes ENSG00000151360 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252505 ENTREZGENE
  ENST00000252505.4 UniProtKB/Swiss-Prot
Gene3D-CATH Galactose-binding domain-like UniProtKB/Swiss-Prot
GTEx ENSG00000151360 GTEx
HGNC ID HGNC:17377 ENTREZGENE
Human Proteome Map ALLC Human Proteome Map
InterPro Allantoicase UniProtKB/Swiss-Prot
  Allantoicase_dom UniProtKB/Swiss-Prot
  Galactose-bd-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:55821 UniProtKB/Swiss-Prot
NCBI Gene 55821 ENTREZGENE
PANTHER ALLANTOICASE-RELATED UniProtKB/Swiss-Prot
  PTHR12045 UniProtKB/Swiss-Prot
Pfam Allantoicase UniProtKB/Swiss-Prot
PharmGKB PA24720 PharmGKB
PIRSF Allantoicase UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49785 UniProtKB/Swiss-Prot
UniProt ALLC_HUMAN UniProtKB/Swiss-Prot
  B4DY77 ENTREZGENE
  Q53T95 ENTREZGENE
  Q5RL81 ENTREZGENE
  Q8N6M5 ENTREZGENE
  Q96RE6 ENTREZGENE
  Q9NZA7 ENTREZGENE
UniProt Secondary B4DY77 UniProtKB/Swiss-Prot
  Q53T95 UniProtKB/Swiss-Prot
  Q5RL81 UniProtKB/Swiss-Prot
  Q96RE6 UniProtKB/Swiss-Prot
  Q9NZA7 UniProtKB/Swiss-Prot