Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
autistic disorder | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:14627686 |



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Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
autistic disorder | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:14627686 |
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1. | GOA_HUMAN data from the GO Consortium |
2. | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Pipeline to import SMPDB annotations from SMPDB into RGD |
4. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 2225061 8390685 9599410 9682271 10780272 11812139 11901356 12477932 14574455 14671192 14702039 15489334 16169070 16344560 16787706 17570738 19058789 19086053 21873635 21900206 22939629 22990118 23453640 24722188 24738946 26871637 28319085 29381655 30652415 |
INPP1 (Homo sapiens - human) |
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Inpp1 (Mus musculus - house mouse) |
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Inpp1 (Rattus norvegicus - Norway rat) |
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Inpp1 (Chinchilla lanigera - long-tailed chinchilla) |
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INPP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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INPP1 (Canis lupus familiaris - dog) |
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Inpp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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INPP1 (Sus scrofa - pig) |
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G16421 |
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SHGC-145512 |
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SHGC-145513 |
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WI-9155 |
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RH17607 |
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INPP1_3186 |
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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. |
RefSeq Transcripts | NM_001128928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_002194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005246532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024452875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB451298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC092178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF141325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI680695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK093560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW015766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC106006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ100772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA272809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ535023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ535042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L08488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001128928 ⟹ NP_001122400 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
GAATGGAGGAGGAAGATTTAAAAGTGAATTCGTGGGCGGCGACAAGGAAACAGCAGCCGTGGCChide sequence |
RefSeq Acc Id: | NM_002194 ⟹ NP_002185 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
GAATGGAGGAGGAAGATTTAAAAGTGAATTCGTGGGCGGCGACAAGGAAACAGCAGCCGTGGCChide sequence |
RefSeq Acc Id: | XM_005246532 ⟹ XP_005246589 | ||||||||||||||
RefSeq Status: | |||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
GCTGAAACTCACCAGGGTTAAATTGATGAGCTTTCTGCGTGAAAGAAGGGAGTGGTGGTGATTThide sequence |
RefSeq Acc Id: | XM_024452875 ⟹ XP_024308643 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
GCGTTTCCACGCCGCGGTCCCGCGGGAAAGCCGGGGGCGGCGGCCTGGCTGAGGCCAAGCTCGGhide sequence |
Protein RefSeqs | NP_001122400 | (Get FASTA) | NCBI Sequence Viewer |
NP_002185 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005246589 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024308643 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA36117 | (Get FASTA) | NCBI Sequence Viewer |
AAD46766 | (Get FASTA) | NCBI Sequence Viewer | |
AAH15496 | (Get FASTA) | NCBI Sequence Viewer | |
AAI06007 | (Get FASTA) | NCBI Sequence Viewer | |
AAY24179 | (Get FASTA) | NCBI Sequence Viewer | |
AHW56662 | (Get FASTA) | NCBI Sequence Viewer | |
AHW56681 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33604 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33605 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52740 | (Get FASTA) | NCBI Sequence Viewer | |
BAG70112 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33121 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46508 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10869 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10870 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10871 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10872 | (Get FASTA) | NCBI Sequence Viewer | |
P49441 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001122400 ⟸ NM_001128928 |
- UniProtKB: | P49441 (UniProtKB/Swiss-Prot), Q6IBG4 (UniProtKB/TrEMBL) |
- Sequence: |
MSDILRELLCVSEKAANIARACRQQEALFQLLIEEKKEGEKNKKFAVDFKTLADVLVQEVIKQNhide sequence |
RefSeq Acc Id: | NP_002185 ⟸ NM_002194 |
- UniProtKB: | P49441 (UniProtKB/Swiss-Prot), Q6IBG4 (UniProtKB/TrEMBL) |
- Sequence: |
MSDILRELLCVSEKAANIARACRQQEALFQLLIEEKKEGEKNKKFAVDFKTLADVLVQEVIKQNhide sequence |
RefSeq Acc Id: | XP_005246589 ⟸ XM_005246532 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P49441 (UniProtKB/Swiss-Prot), Q6IBG4 (UniProtKB/TrEMBL) |
- Sequence: |
MSDILRELLCVSEKAANIARACRQQEALFQLLIEEKKEGEKNKKFAVDFKTLADVLVQEVIKQNhide sequence |
RefSeq Acc Id: | XP_024308643 ⟸ XM_024452875 |
- Peptide Label: | isoform X1 |
- Sequence: |
MSDILRELLCVSEKAANIARACRQQEALFQLLIEEKKEGEKNKKFAVDFKTLADVLVQEVIKQNhide sequence |
RGD ID: | 6862342 | |||||||||
Promoter ID: | EPDNEW_H4336 | |||||||||
Type: | initiation region | |||||||||
Name: | INPP1_3 | |||||||||
Description: | inositol polyphosphate-1-phosphatase | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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RGD ID: | 6862344 | |||||||||
Promoter ID: | EPDNEW_H4337 | |||||||||
Type: | initiation region | |||||||||
Name: | INPP1_1 | |||||||||
Description: | inositol polyphosphate-1-phosphatase | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 6862346 | |||||||||
Promoter ID: | EPDNEW_H4338 | |||||||||
Type: | initiation region | |||||||||
Name: | INPP1_2 | |||||||||
Description: | inositol polyphosphate-1-phosphatase | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 6797651 | |||||||||
Promoter ID: | HG_KWN:36375 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | NM_001128928, NM_002194, OTTHUMT00000334960, OTTHUMT00000334961, OTTHUMT00000334962, OTTHUMT00000334963, OTTHUMT00000334964, OTTHUMT00000334965, OTTHUMT00000334966, OTTHUMT00000334967, OTTHUMT00000334968, UC002URX.2 | |||||||||
Position: |
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RGD ID: | 6797652 | |||||||||
Promoter ID: | HG_KWN:36378 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | |||||||||
Transcripts: | OTTHUMT00000334970 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050980]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050980]|See cases [RCV000050980] | Chr2:174898848..203941548 [GRCh38] Chr2:175763576..204806271 [GRCh37] Chr2:175471822..204514516 [NCBI36] Chr2:2q31.1-33.2 |
pathogenic |
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052558]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052558]|See cases [RCV000052558] | Chr2:176304445..202039790 [GRCh38] Chr2:177169173..202904513 [GRCh37] Chr2:176877419..202612758 [NCBI36] Chr2:2q31.1-33.1 |
pathogenic |
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052559]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052559]|See cases [RCV000052559] | Chr2:177874070..198525492 [GRCh38] Chr2:178738797..199390216 [GRCh37] Chr2:178447043..199098461 [NCBI36] Chr2:2q31.2-33.1 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052958]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052958]|See cases [RCV000052958] | Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052959]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052959]|See cases [RCV000052959] | Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 | copy number loss | See cases [RCV000135876] | Chr2:186027472..201059372 [GRCh38] Chr2:186892199..201924095 [GRCh37] Chr2:186600444..201632340 [NCBI36] Chr2:2q32.1-33.1 |
pathogenic |
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 | copy number loss | See cases [RCV000138253] | Chr2:181758701..192015392 [GRCh38] Chr2:182623428..192880118 [GRCh37] Chr2:182331673..192588363 [NCBI36] Chr2:2q31.3-32.3 |
pathogenic |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 | copy number gain | See cases [RCV000139446] | Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 | copy number loss | See cases [RCV000141735] | Chr2:177827730..195125329 [GRCh38] Chr2:178692457..195990053 [GRCh37] Chr2:178400703..195698298 [NCBI36] Chr2:2q31.2-32.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 | copy number gain | See cases [RCV000142307] | Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 | copy number loss | See cases [RCV000143484] | Chr2:176086763..193201970 [GRCh38] Chr2:176951491..194066696 [GRCh37] Chr2:176659737..193774941 [NCBI36] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 | copy number loss | See cases [RCV000239432] | Chr2:177315153..196375520 [GRCh37] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 | copy number gain | See cases [RCV000448271] | Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
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-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-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(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 | copy number loss | not provided [RCV000740789] | Chr2:189490490..200615496 [GRCh37] Chr2:2q32.2-33.1 |
pathogenic |
Single allele | duplication | Neurodevelopmental disorder [RCV000787403] | Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2 |
pathogenic |
NM_001128928.2(INPP1):c.70del (p.Gln24fs) | deletion | Retinopathy [RCV000844757] | Chr2:190360172 [GRCh38] Chr2:191224898 [GRCh37] Chr2:2q32.2 |
uncertain significance |
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 | copy number loss | not provided [RCV000848216] | Chr2:167329586..192756373 [GRCh37] Chr2:2q24.3-32.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:6071 | AgrOrtholog |
COSMIC | INPP1 | COSMIC |
Ensembl Genes | ENSG00000151689 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000325423 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000376142 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000387079 | UniProtKB/TrEMBL | |
ENSP00000391415 | UniProtKB/TrEMBL | |
ENSP00000392814 | UniProtKB/TrEMBL | |
ENSP00000395424 | UniProtKB/TrEMBL | |
ENSP00000404732 | UniProtKB/TrEMBL | |
ENSP00000409786 | UniProtKB/TrEMBL | |
ENSP00000410662 | UniProtKB/TrEMBL | |
ENSP00000412119 | UniProtKB/TrEMBL | |
ENSP00000415014 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000322522 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000392329 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000409027 | UniProtKB/TrEMBL | |
ENST00000413239 | UniProtKB/TrEMBL | |
ENST00000423767 | UniProtKB/TrEMBL | |
ENST00000430311 | UniProtKB/TrEMBL | |
ENST00000431594 | UniProtKB/TrEMBL | |
ENST00000444194 | UniProtKB/TrEMBL | |
ENST00000451089 | UniProtKB/TrEMBL | |
ENST00000458193 | UniProtKB/TrEMBL | |
ENST00000458647 | UniProtKB/TrEMBL | |
GTEx | ENSG00000151689 | GTEx |
HGNC ID | HGNC:6071 | ENTREZGENE |
Human Proteome Map | INPP1 | Human Proteome Map |
InterPro | Inositol_monoP_metal-BS | UniProtKB/Swiss-Prot |
Inositol_monophosphatase-like | UniProtKB/Swiss-Prot | |
Inositol_monophosphatase_CS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:3628 | UniProtKB/Swiss-Prot |
NCBI Gene | 3628 | ENTREZGENE |
OMIM | 147263 | OMIM |
Pfam | Inositol_P | UniProtKB/Swiss-Prot |
PharmGKB | INPP1 | RGD, PharmGKB |
PROSITE | IMP_1 | UniProtKB/Swiss-Prot |
IMP_2 | UniProtKB/Swiss-Prot | |
UniGene | Hs.32309 | ENTREZGENE |
UniProt | A0A0S2Z3X1_HUMAN | UniProtKB/TrEMBL |
A0A1D5RMQ4_HUMAN | UniProtKB/TrEMBL | |
B5BU62_HUMAN | UniProtKB/TrEMBL | |
B8ZZF6_HUMAN | UniProtKB/TrEMBL | |
C9J128_HUMAN | UniProtKB/TrEMBL | |
C9J173_HUMAN | UniProtKB/TrEMBL | |
C9J2N5_HUMAN | UniProtKB/TrEMBL | |
C9J2Z6_HUMAN | UniProtKB/TrEMBL | |
E7ENF2_HUMAN | UniProtKB/TrEMBL | |
E7ET59_HUMAN | UniProtKB/TrEMBL | |
E7EUX4_HUMAN | UniProtKB/TrEMBL | |
INPP_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q6IBG4 | ENTREZGENE, UniProtKB/TrEMBL | |
X5DP77_HUMAN | UniProtKB/TrEMBL | |
X5DRF6_HUMAN | UniProtKB/TrEMBL |
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More on INPP1 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1314476 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.