AutismKB 2.0

Annotation Detail for PHIP


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Basic Information Top
Gene Symbol:PHIP ( DCAF14,FLJ20705,FLJ45918,MGC90216,WDR11,ndrp )
Gene Full Name: pleckstrin homology domain interacting protein
Band: 6q14.1
Quick LinksEntrez ID:55023; OMIM: 612870; Uniprot ID:PHIP_HUMAN; ENSEMBL ID: ENSG00000146247; HGNC ID: 15673
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body8 / 70761113
blastocyst8 / 62319128
fetus59 / 564012104
neonate1 / 3109732
infant2 / 2362084
juvenile5 / 5555689
adult124 / 193912163
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult4 / 19391212
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor15 / 26384556
glioma2 / 10688318
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia10 / 95842104
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal242 / 336030772
ovarian tumor12 / 76682156
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor8 / 12494964
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor7 / 9025777
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal11 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites5 / 40015124
bladder4 / 29757134
blood6 / 12347848
bone2 / 7165527
bone marrow5 / 48801102
brain42 / 110098938
cervix1 / 4817120
connective tissue5 / 14925533
ear16 / 16212986
embryonic tissue27 / 215722125
esophagus0 / 202090 
eye19 / 21105490
heart0 / 896260 
intestine17 / 23447272
kidney15 / 21177770
larynx1 / 2414541
liver24 / 207743115
lung23 / 33697468
lymph1 / 4427022
lymph node11 / 91610120
mammary gland21 / 153271137
mouth6 / 6705289
muscle15 / 107715139
nerve2 / 15768126
ovary12 / 102051117
pancreas13 / 21481260
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta18 / 28082564
prostate11 / 18934558
salivary gland1 / 2015549
skin9 / 21057442
spleen4 / 5395274
stomach0 / 966190 
testis11 / 33044233
thymus10 / 81131123
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus17 / 23287872
vascular2 / 5178038
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212542_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts49.8
Adipocyte8.6
AdrenalCortex9.65
Adrenalgland7.35
Amygdala8.7
Appendix14.9
AtrioventricularNode10.7
BDCA4+_DentriticCells44.15
Bonemarrow9.1
BronchialEpithelialCells8.35
CD105+_Endothelial24.7
CD14+_Monocytes41.6
CD19+_BCells(neg._sel.)70.25
CD33+_Myeloid110.55
CD34+94.05
CD4+_Tcells87
CD56+_NKCells36.7
CD71+_EarlyErythroid28.75
CD8+_Tcells63.6
CardiacMyocytes22.3
Caudatenucleus6.6
Cerebellum6.9
CerebellumPeduncles12.7
CiliaryGanglion8.55
CingulateCortex10.45
Colorectaladenocarcinoma8.8
DorsalRootGanglion9.35
FetalThyroid10.75
Fetalbrain8.75
Fetalliver9.15
Fetallung10.05
GlobusPallidus7.7
Heart12.85
Hypothalamus8.95
Kidney7.35
Leukemia_chronicMyelogenousK-5628.25
Leukemia_promyelocytic-HL-609.25
Leukemialymphoblastic(MOLT-4)10.15
Liver13.35
Lung7.65
Lymphnode6.55
Lymphoma_burkitts(Daudi)25.8
Lymphoma_burkitts(Raji)15.45
MedullaOblongata9.5
OccipitalLobe13.7
OlfactoryBulb12.8
Ovary10.8
Pancreas8.75
PancreaticIslet18
ParietalLobe12.9
Pituitary42.95
Placenta7.35
Pons9.1
PrefrontalCortex29.65
Prostate9.5
Salivarygland7.95
SkeletalMuscle15.45
Skin8.6
SmoothMuscle9.85
Spinalcord8.3
SubthalamicNucleus9.9
SuperiorCervicalGanglion14.8
TemporalLobe10.35
Testis6.15
TestisGermCell20.45
TestisIntersitial12.25
TestisLeydigCell9.65
TestisSeminiferousTubule11.35
Thalamus8.45
Thymus5.7
Thyroid10.75
Tongue10.45
Tonsil12.55
Trachea17.35
TrigeminalGanglion10.5
Uterus30.95
UterusCorpus12.45
WholeBlood16.2
Wholebrain6.05
colon7.9
pineal_day94.82
pineal_night60.24
retina11.45
small_intestine7.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P630039
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.7 ± 0.57
Basal Forebrain4.72 ± 0.39
Basal Part of Pons4.54 ± 0.41
Cerebellar Cortex5 ± 0.21
Cerebellar Nuclei4.41 ± 0.45
Claustrum4.23 ± 0.66
Epithalamus5.02 ± 0.47
Frontal Lobe4.42 ± 0.5
Globus Pallidus4.69 ± 0.53
Hypothalamus4.56 ± 0.48
Insula4.53 ± 0.5
Limbic Lobe4.34 ± 0.51
Mesencephalon4.63 ± 0.41
Myelencephalon4.54 ± 0.51
Occipital Lobe4.75 ± 0.38
Parietal Lobe4.56 ± 0.47
Pontine Tegmentum4.44 ± 0.46
Striatum4.23 ± 0.51
Subthalamus4.12 ± 0.22
Temporal Lobe4.43 ± 0.49
Thalamus4.42 ± 0.54
White Matter5.51 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PhipCBCerebellum0
0
PhipCTXCerebral cortex0
0
PhipHIPHippocampal region0
0
PhipHPFHippocampal formation0
0
PhipHYHypothalamus0
0
PhipLSXLateral septal complex0
0
PhipMBMidbrain0
0
PhipMYMedulla0
0
PhipOLFOlfactory bulb0
0
PhipPPons0
0
PhipPALPallidum0
0
PhipRHPRetrohippocampal region0
0
PhipsAMYStriatum-like amygdalar nuclei0
0
PhipSTRStriatum0
0
PhipSTRdStriatum dorsal region0
0
PhipSTRvStriatum ventral region0
0
PhipTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00067427 16 22 37 FLEDGPCQQAAQVLIR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018